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Symptom Checker » Finger symptoms » Supraclavicular retraction on inspiration
 

Finger symptoms and Supraclavicular retraction on inspiration
Symptom Checker

Results: Causes of Finger symptoms AND Supraclavicular retraction on inspiration

Note: Do not use for diagnosis; see limitations of results.

Results: 1565 causes of Finger symptoms OR Supraclavicular retraction on inspiration

    1. 1q deletion
     A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    2. 22q11.2 deletion syndrome
     A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans....more »
    3. 2q deletion
     A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    4. 3q deletion
     A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    5. 46,XX chromosome 7 deletion p13
     A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities....more »
    6. 47,XXX syndrome
     A genetic condition where females have an extra X chromosome in each of their cells. Normally female cells have two X chromosomes. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomati...more »
    7. 49,XXXXX syndrome
     A rare chromosomal disorder that affects only females and involves body cells having five copies of the X chromosome instead of the normal two....more »
    8. 49,XXXXY syndrome
     A rare sex chromosome abnormality where there are three extra copies of the X chromosome....more »
    9. ADULT syndrome
     A rare syndrome characterized by nail abnormalities, abnormal teeth development, tear duct obstruction, pigmentation anomalies and hand and foot abnormalities....more »
    10. AREDYLD
     A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes....more »
    11. ATRUS syndrome
     A rare syndrome characterized by fusion of the forearm bones near the elbow and a blood disorder....more »
    12. Aarskog Syndrome
     A rare genetic condition characterized by facial, hand, genital and growth abnormalities....more »
    13. Absence of tibia with polydactyly
     The congenital absence of the tibial bone which is the shin bone as well as the presence of extra fingers....more »
    14. Absent patellae -- scrotal hypoplasia -- renal anomalies -- facial dysmorphism -- mental retardation
     A rare syndrome characterized by absent kneecaps, underdeveloped scrotum, kidney anomalies, unusual facial appearance and mental retardation....more »
    15. Acanthokeratodermia
     An uncommon skin condition involving excessive growth of the horny part of the skin on the palms of the hands and soles of the feet. Patients also suffer thickening of the nails....more »
    16. Acetaminophen -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Acetaminophen during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level o...more »
    17. Achondrogenesis type 1A and 1B
     A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine....more »
    18. Achrestic anemia
     Achrestic anemia is a form of anemia similar to that caused by Vitamin B12 deficiency but it doesn't respond to treatment with Vitamin B12. The condition tends to progress slowly and can result in death if not treated. There are a variety of possible caus...more »
    19. Acidic dry cell batteries inhalation poisoning
     Acidic dry cell batteries contain toxic chemicals which can cause symptoms if inhaled. The smoke emitted from burning batteries can also cause poisoning symptoms if sufficient quantities are inhaled. The type and severity of symptoms varies depending on t...more »
    20. Ackerman syndrome
     An extremely rare condition characterized primarily by glaucoma, upper lip deformity and abnormal tooth roots....more »
    21. Acro coxo mesomelic dysplasia
     A rare inherited form of dwarfism characterized mainly by shortening of the middle and end parts of the limbs....more »
    22. Acro-pectoro-renal field defect
     A very rare genetic syndrome characterized by abnormalities of the genital and urinary systems as well as the absence of chest muscles at birth....more »
    23. Acro-reno-ocular syndrome
     A disorder characterized by eye abnormalities, kidney defects and abnormalities of the arm and hand bones....more »
    24. Acrocallosal Syndrome (Schinzel Type)
     A rare condition characterized by absence of portion of the brain (corpus callosum), mental deficiency, duplicated toes, mental deficiency and other abnormalities....more »
    25. Acrocapitofemoral dysplasia
     A rare inherited disorder characterized mainly by short limbs, dwarfism and cone-shaped epiphyses mainly in the hands and hips....more »
    26. Acrocephalopolydactyly
     A rare genetic condition characterized by limb abnormalities, extra digits and hydrocephalus. Other additional symptoms are variably present....more »
    27. Acrocephalopolydactyly II
     A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation....more »
    28. Acrocephalopolysyndactyly, type 2 (ACPS 2)
     A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders....more »
    29. Acrocephalosyndactyly II
     A rare inherited disorder characterized primarily by premature closure of skull bones, fusion of fingers and toes and eye and face abnormalities....more »
    30. Acrocephalosyndactyly Syndrome type 5
     A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity....more »
    31. Acrocephalosyndactyly type 5 (ACPS 5)
     A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity....more »
    32. Acrodermatitis, persistent
     A rare chronic skin condition characterized by the eruption of pustules that usually occur on the ends of fingers...more »
    33. Acrodysplasia scoliosis
     A rare inherited genetic disorder characterized by short fingers and toes, scoliosis and other spine anomalies....more »
    34. Acrofacial dysostosis Catania form
     One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare....more »
    35. Acrofacial dysostosis Rodriguez type
     One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations....more »
    36. Acrofacial dysostosis atypical postaxial
     A rare genetic disorder characterized by absence of some fingers and toes and characteristic facial features....more »
    37. Acrofacial dysostosis postaxial, atypical
     A rare disorder characterized by an unusual facial appearance, short stature and hand and foot bone anomalies. The disorder may be related to the fact that the infants were born to mothers with diabetes....more »
    38. Acrofacial dysostosis, Nager type
     A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects....more »
    39. Acrofacial dysostosis, Palagonia type
     One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild....more »
    40. Acrofacial dysostosis, Weyers type
     A rare disorder characterized by facial abnormalities and extra digits, nail abnormalities and short limbs....more »
    41. Acrofrontofacionasal dysostosis syndrome
     A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present....more »
    42. Acromesomelic dysplasia
     A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis....more »
    43. Acroosteolysis neurogenic
     A very rare inherited condition characterized mainly by the loss of all sensations - the lose the ability to feel pain, temperature and touch. The loss of sensation generally starts at the toes and fingers and spreads up the limbs and the trunk may also b...more »
    44. Acropectoral syndrome
     A rare disorder characterized by extra fingers and toes, fusion of fingers and toes and anomalies involving the abdominal and chest wall....more »
    45. Acropectorovertebral dysplasia
     A rare inherited genetic disorder characterized by abnormalities involving the fingers, toes, palate and chest bones....more »
    46. Acrorenal syndrome recessive
     A rare, recessively inherited disorder characterized by the association of kidney and hand and foot abnormalities....more »
    47. Acute Bronchitis
     Respiratory inflammation of the bronchi leading to the lungs...more »
    48. Adactylia unilateral dominant
     A rare genetic condition characterized by missing portions of fingers usually with some sort of malformed remnant of a nail on the end of what is remaining of the finger....more »
    49. Adams-Oliver Syndrome
     A very rare inherited disorder characterized by scalp, skull and limb abnormalities. The range and severity of the symptoms can vary greatly from mild to severe....more »
    50. Adducted thumb syndrome recessive form
     A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities....more »
    51. Adducted thumbs -- arthrogryposis, Christian type
     A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities....more »
    52. Adducted thumbs Dundar type
     A rare disorder characterized by a thumb abnormality as well as mental retardation, foot defects and other anomalies....more »
    53. Aglossia-Adactylia syndrome
     A rare syndrome characterized mainly by the association of a missing tongue with missing fingers or toes. Other malformations are also variably present....more »
    54. Aglossia-Hypoactylia syndrome
     A rare syndrome characterized mainly by the association of a missing tongue with missing fingers or toes. Other malformations are also variably present....more »
    55. Al Awadi syndrome
     A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis....more »
    56. Al Awadi-Raas-Rothschild syndrome
     A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis. The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related....more »
    57. Albright's hereditary osteodystrophy
     A rare genetic disorder where the body fails to recognize and respond to the parathyroid hormone. The parathyroid hormone is involved in controlling the blood levels of calcium and phosphate....more »
    58. Albuterol -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Albuterol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of ex...more »
    59. Allain Babin Demarquez syndrome
     A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension....more »
    60. Alopecia -- hypogonadism -- extrapyramidal disorder
     A rare syndrome characterized by alopecia, progressive movement problems and a lack of gonadal function which affects puberty....more »
    61. Alopecia mental retardation syndrome
     A rare syndrome characterized primarily by a lack of hair and mental retardation....more »
    62. Alveolitis, extrinsic allergic
     A lung disease that tends to occur in people with jobs where they are frequently exposed to organic dust inhalation....more »
    63. Alves Castelo dos Santos syndrome
     A rare syndrome characterized by hair, eye, skin and spinal abnormalities....more »
    64. Amastia, bilateral, with ureteral triplication and dysmorphism
     A very rare disorder characterized mainly by the absence of both breasts, triplicated ureters (normally they are duplicated), facial anomalies and various other defects....more »
    65. Amelo-onycho-hypohidrotic syndrome
     A rare disorder characterized primarily by tooth and nail abnormalities and reduced sweating ability....more »
    66. Amitriptyline -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Amitriptyline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level o...more »
    67. Amlodipine -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Amlodipine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of e...more »
    68. Amniotic Bands
     A rare condition where abnormal fetal development occurs when bands of tissue encircle parts of the fetus and affect the growth of that portion. The band of tissue develops from the internal womb lining. The location of the band on the fetus determines th...more »
    69. Amobarbital -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Amobarbital during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of ...more »
    70. Amphetamine -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Amphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of ...more »
    71. Ampicillin -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Ampicillin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of e...more »
    72. Ampola syndrome
     A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities....more »
    73. Amyoplasia congenital disruptive sequence
     A rare genetic disorder characterized by congenital contractures of two or more different joints....more »
    74. Anaphylaxis
     A rare, potentially life-threatening allergic reaction....more »
    75. Andersen-Tawil syndrome
     A rare disorder where a genetic mutation causes periods of muscle weakness, heart rhythm abnormalities and various physical development abnormalities. It is believed to be caused by problems with the way the body utilizes potassium....more »
    76. Anemia
     Reduced ability of blood to carry oxygen from various possible causes....more »
    77. Anemia, Iron-Deficiency
     A lack of fully functioning red blood cells due to a deficiency of iron. The iron allows the body to make hemoglobin in red blood cells which in turn allows the red blood cell to carry oxygen....more »
    78. Anemia, hypochromic microcytic
     A blood disorder where red blood cells are too small and lack sufficient iron. It can be inherited or caused by insufficient iron in the diet or from a genetic disorder....more »
    79. Angel shaped phalangoepiphyseal dysplasia
     A rare genetic bone development disorder characterized mainly by an unusual angel-shaped ends of some bones (fingers and hips) which leads to early osteoarthritis....more »
    80. Ankylosis -- facial anomalies -- pulmonary hypoplasia syndrome
     A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs....more »
    81. Anonychia -- ectrodactyly
     A very rare syndrome characterized by the absence of nails and the absence of all or part of one or more fingers or toes (ectrodactyly)....more »
    82. Anonychia -- microcephaly
     A very rare syndrome characterized by the absence of nails and a small head....more »
    83. Anonychia -- onychodystrophy
     A rare birth malformation characterized by absent nails and dystrophic nails....more »
    84. Anonychia onychodystrophy brachydactyly type b
     A rare, dominantly inherited disorder characterized abnormal or absent nails, permanently flexed fingers and a broad, finger-like thumb....more »
    85. Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
     A rare, dominantly inherited disorder characterized abnormal or absent nails, missing fingers, permanently flexed fingers and a broad, finger-like thumb....more »
    86. Anophthalmia -- hand and foot defects -- mental retardation
     A rare syndrome characterized mainly by mental retardation, hand and foot defects and absent eyes....more »
    87. Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies
     A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities....more »
    88. Anophthalmia -- short stature -- obesity
     A very rare syndrome characterized by absent eyes, short stature and obesity....more »
    89. Antisynthetase syndrome
     A rare autoimmune disease that affects the muscles. It involves the development of antibodies to an enzyme (aminoacyl-tRNA synthetase) which is involved in making proteins....more »
    90. Antley-Bixler Syndrome
     A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities....more »
    91. Antley-Bixler-like syndrome -- ambiguous genitalia -- disordered steroidogenesis
     A rare genetic disorder involving a deficiency of an enzyme (cytochrome P450 oxidoreductase) which causes steroid abnormalities. The condition results in ambiguous genitalia in females due to excessive androgen during fetal growth. Patients can also have ...more »
    92. Aphalangia -- syndactyly -- microcephaly
     A very rare syndrome characterized by the absence of one or more bones of the fingers and toes, a small head and fusion of fingers....more »
    93. Aphalangy -- hemivertebrae -- urogenital-intestinal dysgenesis
     A rare congenital disorder characterized by missing fingers and toes, abnormal vertebrae and various malformations of the organs....more »
    94. Aphasia
     Language difficulty usually from brain damage or stroke....more »
    95. Aplasia cutis congenital -- intestinal lymphangiectasia
     A rare disorder characterized by a skin defect and dilated intestinal lymph vessels....more »
    96. Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails
     A rare syndrome characterized by the underdevelopment or absence of the pelvis, thigh bone, shin bone and ulna (forearm bone) as well as digital and nail abnormalities....more »
    97. Arachnodactyly -- Intellectual Deficit -- Dysmorphism
     A rare condition characterized by long thin digits, reduced intelligence characteristic facial appearance....more »
    98. Arachnodactyly -- ataxia -- cataract -- aminoaciduria -- mental retardation
     A rare syndrome characterized mainly by congenital cataracts, ataxia, mental retardation, abnormal amino acid metabolism and long, thin fingers....more »
    99. Arachnodactyly -- mental retardation -- dysmorphism
     A very rare syndrome characterized by mental retardation, unusual facial features and long, thin fingers and toes....more »
    100. Arterial occlusive disease, progressive -- hypertension -- heart defects -- bone fragility -- brachysyndactyly
     A rare syndrome characterized by narrowing or blockage of a number of arteries (in the kidneys, abdomen, brain and heart) as well as fragile bones, heart defects and finger abnormalities. Fractures and high blood pressure often start during the first year...more »
    101. Arthritis-related enthesitis
     Inflammation of the entheses due to arthritis. The enthuses is the site at which the tendon or ligament attaches to the bone....more »
    102. Arthrogryposis -- ophthalmoplegia -- retinopathy
     A very rare syndrome characterized by congenital contractures of the hands and feet as well as eye problems....more »
    103. Arthrogryposis Distal
     A form of arthrygryposis (congenital contractures) which tends to affect mainly the distal parts of limbs (hands and feet). The degree of limb involvement is variable....more »
    104. Arthrogryposis multiplex congenita -- pulmonary hypoplasia
     A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems....more »
    105. Arthrogryposis multiplex congenita type 2B
     A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities....more »
    106. Arthrogryposis multiplex congenita, distal type 1
     A form of arthrygryposis (congenital contractures) which tends to affect mainly the distal parts of limbs (hands and feet). The degree of limb involvement is variable....more »
    107. Arthrogryposis multiplex congenita, distal, X-linked
     A rare condition characterized by the presence of contractures at birth as well as various other anomalies. The condition is X-linked....more »
    108. Arthrogryposis, distal, type 2A
     A form of distal arthrogryposis (joint contractures in ends of limbs) that involves additional symptoms such as facial and spinal anomalies....more »
    109. Arthrogryposis, distal, type 2B
     A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities....more »
    110. Arthrogryposis, distal, type 2E
     A rare syndrome characterized by contractures of the fingers and jaw....more »
    111. Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
     A very rare syndrome characterized mainly by mental retardation, permanent flexion of fingers, low pituitary hormone level and facial anomalies....more »
    112. Arthrogryposis-like hand anomaly -- sensorineural deafness
     A rare disorder characterized by hand contractures and deafness....more »
    113. Asbestos conditions
     Medical conditions caused be exposure to asbestos dust...more »
    114. Asphyxiating Thoracic Dystrophy 2
     Asphyxiating thoracic dystrophy is rare syndrome characterized mainly by abnormal development of the ribcage The ribcage is restricted to the point where breathing is impaired and death during infancy is a common occurrence. Type 2 is linked to a defect o...more »
    115. Asphyxiating Thoracic Dystrophy 3
     Asphyxiating thoracic dystrophy is rare syndrome characterized mainly by abnormal development of the ribcage The ribcage is restricted to the point where breathing is impaired and death during infancy is a common occurrence. Type 3 is linked to a defect o...more »
    116. Asthma
     Repeated attacks of breathing difficulty....more »
    117. Ataxia -- apraxia -- mental retardation, X-linked
     A rare X-linked syndrome characterized mainly by ataxia, apraxia and mental retardation. The symptoms are generally nonprogressive....more »
    118. Atelosteogenesis Type III
     A very rare inherited skeletal ossification disorder. Unlike types I and II, survival past infancy is possible in type III....more »
    119. Athabaskan severe combined immunodeficiency
     A severe immunodeficiency disorder found in Navajo and Apache populations....more »
    120. Atrial myxoma, familial
     An atrial myxoma benign tumor that develops in the wall that separates the two upper chambers of the heart. The familial form of the condition also involves tumors in other parts of the body such as the skin, both heart atria or the heart ventricles....more »
    121. Atropine -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Atropine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exp...more »
    122. Aureomycin -- Teratogenic Agent
     There is evidence to indicate that exposure to Aureomycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the l...more »
    123. Axial mesodermal dysplasia spectrum
     A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop....more »
    124. Azathioprine -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Azathioprine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of...more »
    125. Banki syndrome
     A rare disorder characterized by abnormal curvature of fingers, thin middle sections of long bones, fusion of certain wrist bones (lunate and cuneiform bones) and other hand abnormalities....more »
    126. Baraitser burn fixen syndrome
     A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face....more »
    127. Barakat syndrome
     A rare condition characterized by deafness, kidney disease and insufficiency parathyroid hormone production....more »
    128. Bardet-Biedl Syndrome
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities....more »
    129. Bardet-Biedl syndrome, type 1
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13....more »
    130. Bardet-Biedl syndrome, type 10
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 10 is caused by a defect in chromosome 12q....more »
    131. Bardet-Biedl syndrome, type 11
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 11 is caused by a defect in chromosome 9q33.1....more »
    132. Bardet-Biedl syndrome, type 12
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27....more »
    133. Bardet-Biedl syndrome, type 2
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 2 is caused by a defect in chromosome 16q21....more »
    134. Bardet-Biedl syndrome, type 3
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 3 is caused by a defect in chromosome 3p12-q13....more »
    135. Bardet-Biedl syndrome, type 4
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 4 is caused by a defect in chromosome 15q22.3....more »
    136. Bardet-Biedl syndrome, type 5
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 5 is caused by a defect in chromosome 2q31....more »
    137. Bardet-Biedl syndrome, type 6
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 6 is caused by a defect in chromosome 20p12....more »
    138. Bardet-Biedl syndrome, type 7
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 7 is caused by a defect in chromosome 4q27....more »
    139. Bardet-Biedl syndrome, type 8
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 8 is caused by a defect in chromosome 14q32.11....more »
    140. Bardet-Biedl syndrome, type 9
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14....more »
    141. Barnicoat-Baraitser syndrome
     A rare syndrome characterized mainly by extra digits and excessive growth resulting in an increased birth weight and size....more »
    142. Bartsocas Papa syndrome
     A rare condition characterized by webbing of skin as well as various other physical and mental abnormalities....more »
    143. Basan syndrome
     A rare condition characterized by skin, hair and nail abnormalities....more »
    144. Basilar artery migraine
     Basilar migraine (BM), also known as Bickerstaff syndrome, consists of headache accompanied by dizziness, ataxia, tinnitus, decreased hearing, nausea and vomiting, dysarthria, diplopia, loss of balance, bilateral paresthesias or paresis, altered conscious...more »
    145. Baughman syndrome
     A rare syndrome characterized mainly by fused eyelids, curly hair and abnormal nails....more »
    146. Bd syndrome
     A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder....more »
    147. Beals syndrome
     A rare genetic connective tissue disorder characterized by joint contractures, arachnodactyly and a crumpled appearing ear....more »
    148. Ben-Ari-Shuper-Mimouni syndrome
     A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder....more »
    149. Benadryl -- Teratogenic Agent
     There is evidence to indicate that exposure to Benadryl during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure a...more »
    150. Benazepril -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Benazepril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of e...more »
    151. Benign Fasciculation Syndrome
     Common movement disorder manifesting in a fine (fast) tremor; it is an inherited condition of unknown cause....more »
    152. Bentham-Driessen-Hanveld syndrome
     A rare syndrome characterized mainly by the association of undescended testes, long thin fingers and mental retardation....more »
    153. Berylliosis
     A condition that results from inhalation of beryllium in to form of dust or fumes. The lungs, skin eyes or blood may be affected and the affects can occur immediately or after long term exposure....more »
    154. Bhaskar-Jagannathan syndrome
     A very rare syndrome characterized primarily by long, thin fingers, amino acids in the urine, cataracts (during infancy), incoordination and delayed development....more »
    155. Biemond syndrome type 2
     A rare inherited condition characterized by mental retardation, obesity, polydactyly and underdeveloped genitals....more »
    156. Biemond syndrome type 3
     A rare inherited condition characterized by the inability to feel pain as well as other anomalies....more »
    157. Bindewald-Ulmer-Muller syndrome
     A rare syndrome characterized mainly by a heart defect, and mental and growth retardation....more »
    158. Blepharo facio skeletal syndrome
     A very rare syndrome characterized mainly by eyelid, facial and skeletal abnormalities....more »
    159. Blepharophimosis -- ptosis -- syndactyly -- mental retardation
     A rare genetic disorder characterized by eye anomalies, webbed fingers and mental retardation....more »
    160. Blepharophimosis ptosis esotropia syndactyly short
     A rare disorder characterized by eye anomalies, webbed fingers and short stature....more »
    161. Blepharophimosis, ptosis, polythelia and brachydactyly
     A rare syndrome characterized mainly by droopy eyelids, short digits, blepharophimosis and accessory nipples (polythelia)....more »
    162. Blepharoptosis -- cleft palate -- ectrodactyly -- dental anomalies
     A rare genetic disorder characterized primarily by dental symptoms, opening in the roof of the mouth (cleft palate) and missing fingers giving the hands a claw like appearance....more »
    163. Borrone-Di Rocco-Crovato syndrome
     A rare progressive syndrome characterized by skin, heart and skeletal defects. Only several reported cases of the condition....more »
    164. Brachycephalofrontonasal dysplasia
     A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities....more »
    165. Brachydactylous dwarfism, Mseleni type
     A very rare syndrome characterized primarily by progressive joint disease, short stature and short fingers and toes. The joint disease affects mainly the hips, knees, ankles and spine. The condition can eventually lead to disability and hip and/or knee re...more »
    166. Brachydactyly -- arterial hypertension
     A rare syndrome characterized by the association of hypertension with short digits. Premature death (by the fifth decade) due to stroke occurs in untreated patients....more »
    167. Brachydactyly -- dwarfism -- mental retardation
     A very rare syndrome characterized by short fingers, very short stature and mental retardation....more »
    168. Brachydactyly -- elbow, wrist dysplasia
     A very rare syndrome characterized by elbow and wrist abnormalities and short end bones of fingers....more »
    169. Brachydactyly -- mesomelia -- mental retardation -- heart defects
     A rare genetic disorder characterized by mental retardation, heart defects, short digits and short limbs....more »
    170. Brachydactyly -- scoliosis -- carpal fusion
     A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones....more »
    171. Brachydactyly -- small stature -- face anomalies
     A rare genetic disorder characterized by short stature, short fingers and toes and facial anomalies....more »
    172. Brachydactyly type A3
     A hand malformation characterized by a short middle bone of the fifth finger and this finger usually bends towards the fourth finger....more »
    173. Brachydactyly type A6
     A rare limb malformation disorder characterized by underdeveloped or absent middle bones in fingers and toes as well as shortened limbs and short stature....more »
    174. Brachydactyly type B
     A form of finger deformity characterized by absent or underdeveloped end and middle bones of fingers and toes as well as absent or underdeveloped nails....more »
    175. Brachydactyly type C
     A rare malformation characterized primarily by variable deformities involving the two sections closest to the hand of the second and third fingers....more »
    176. Brachydactyly, long thumb type
     A rare digital anomaly characterized by short fingers and a long thumb....more »
    177. Brachydactyly, type A5, nail dysplasia
     A rare digital anomaly where the middle bones of the second to fifth fingers are missing and the nails are abnormal....more »
    178. Brachydactyly, type B2
     A rare dominantly inherited hand and foot malformation involving varying degrees of absence or underdevelopment of the ends of the fingers and toes as well as fusion of bones in the wrist and ankle....more »
    179. Brachymetapody, anodontia, hypotrichosis, albinoidism
     A rare syndrome characterized by short foot bones, total absence of teeth, reduced amount of hair and lack of skin pigmentation....more »
    180. Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
     A rare syndrome characterized mainly by short digits, extra digits and a small or absent shin bone....more »
    181. Brachytelephalangy, characteristic facies, Kallmann
     A very rare syndrome characterized primarily by very short end bones of fingers and facial anomalies....more »
    182. Brain malformation -- congenital heart disease -- postaxial polydactyly
     A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers....more »
    183. Broken finger
     Fracture of a finger bone...more »
    184. Bromides -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Bromides during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exp...more »
    185. Bronchiolitis
     Inflammation of the bronchioles....more »
    186. Bronchiolitis Obliterans -- Ammonia inhalation
     A lung disease caused by inhalation of Ammonia. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period...more »
    187. Bronchiolitis Obliterans -- Chlorine inhalation
     A lung disease caused by inhalation of Chlorine. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a perio...more »
    188. Bronchiolitis Obliterans -- Diacetyl inhalation
     A lung disease caused by inhalation of Diacetyl. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a perio...more »
    189. Bronchiolitis Obliterans -- Hydrogen bromide inhalation
     A lung disease caused by inhalation of Hydrogen bromide. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over...more »
    190. Bronchiolitis Obliterans -- Hydrogen chloride inhalation
     A lung disease caused by inhalation of Hydrogen chloride. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms ove...more »
    191. Bronchiolitis Obliterans -- Hydrogen fluoride inhalation
     A lung disease caused by inhalation of Hydrogen fluoride. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms ove...more »
    192. Bronchiolitis Obliterans -- Hydrogen sulfide inhalation
     A lung disease caused by inhalation of Hydrogen sulfide. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over...more »
    193. Bronchiolitis Obliterans -- Methyl isocyanate inhalation
     A lung disease caused by inhalation of Methyl isocyanate. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms ove...more »
    194. Bronchiolitis Obliterans -- Nitrogen Oxide inhalation
     A lung disease caused by inhalation of Nitrogen oxides. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over ...more »
    195. Bronchiolitis Obliterans -- Ozone inhalation
     A lung disease caused by inhalation of ozone. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period o...more »
    196. Bronchiolitis Obliterans -- Phosgene inhalation
     A lung disease caused by inhalation of Nitrogen oxides. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over ...more »
    197. Bronchiolitis Obliterans -- Polyamide-amine dyes inhalation
     A lung disease caused by inhalation of Polyamide-amine dyes. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms ...more »
    198. Bronchiolitis Obliterans -- Sulphur dioxide inhalation
     A lung disease caused by inhalation of Sulphur dioxide. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over ...more »
    199. Bronchiolitis Obliterans -- Thionyl chloride inhalation
     A lung disease caused by inhalation of Thionyl chloride. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over...more »
    200. Brugsch's syndrome
     A rare syndrome characterized by small hands and feet as well as thickened skin on the hands, feet, scalp and face....more »
    201. Budesonide -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Budesonide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of e...more »
    202. Buerger's disease
     Buergers's disease is a recurring inflammation and thrombosis (clotting) of small and medium arteries and veins of the hands and feet...more »
    203. Bulimia nervosa
     Eating disorder with binging (overeating) and purging (vomiting)....more »
    204. Bullous dystrophy, macular type
     A rare condition characterized by loss of scalp hair, increased skin pigmentation, small head, mental retardation, short stature and blisters. The blisters do not form necessarily on skin that has suffered trauma but occurs spontaneously....more »
    205. Buntinx-Lormans-Martin syndrome
     A very rare syndrome characterized mainly by eye anomalies and fusion of the forearm bones....more »
    206. Buttiens-Fryns syndrome
     A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet....more »
    207. C-like syndrome
     A rare disorder involving poor fetal growth, limb and facial defects and severe developmental delay....more »
    208. CAMFAK syndrome
     A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature....more »
    209. COFS syndrome
     A genetic disorder involving degeneration of the brain and spinal cord that starts during the fetal stage....more »
    210. COPD
     Severe obstruction of bronchial air flow typically from bronchitis and/or emphysema....more »
    211. Calcium deficiency
     Dietary deficiency of calcium....more »
    212. Camera Costa Syndrome
     Camera Costa syndrome refers to a reported case characterized by hand and finger malformations, hearing impairment and heart defect....more »
    213. Camera-Marugo-Cohen syndrome
     A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body....more »
    214. Campomelia Cumming type
     A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after....more »
    215. Camptodactyly -- fibrous tissue hyperplasia -- skeletal dysplasia
     A rare syndrome characterized by a hand deformity and skeletal abnormalities....more »
    216. Camptodactyly -- taurinuria
     A rare disorder characterized by high urinary levels of taurine as well as a hand malformation....more »
    217. Camptodactyly syndrome, Guadalajara type 2
     A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly)....more »
    218. Camptodactyly syndrome, Guadalajara type 3
     A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly)....more »
    219. Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
     A rare syndrome characterized by a hand deformity and skeletal abnormalities....more »
    220. Camptodactyly, tall stature, and hearing loss syndrome
     A rare syndrome characterized mainly by camptodactyly, tall stature and hearing loss. The hearing loss starts at birth or during infancy and progresses during childhood resulting in mild to severe hearing impairment....more »
    221. Captopril -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Captopril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of ex...more »
    222. Carbamazepine -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Carbamazepine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level o...more »
    223. Cardiac malformation
     Any malformation or structural defect of the heart or it's structures. Some examples include atrioventricular septal defect, conotruncal malformations, transposition of great vessels and heart valve dysplasia. The symptoms vary in nature and severity depe...more »
    224. Carnevale-Hernandez-Castillo syndrome
     An extremely rare disorder characterized by missing digits or parts of digits and a thumb that has three bones like a finger instead of the normal two....more »
    225. Carnevale-Krajewska-Fischetto syndrome
     A rare genetic disorder characterized by drooping eyelids, hip problems, undescended testes and developmental delay....more »
    226. Carpal Tunnel Syndrome
     Hand or wrist problems; often from repetitive motion....more »
    227. Cartwright-Nelson-Fryns syndrome
     A rare syndrome characterized by mental and physical retardation as well as nail and digital abnormalities....more »
    228. Casanthranol -- Teratogenic Agent
     There is evidence to indicate that exposure to Casanthranol (a laxative) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the le...more »
    229. Cataract and congenital ichthyosis
     A rare syndrome characterized by the presence of cataracts and a dry, scaly skin condition (ichthyosis) at birth or soon after....more »
    230. Cataract, alopecia, sclerodactyly
     A rare disorder characterized by cataracts, lack of hair and skin changes in the hands and feet....more »
    231. Caudal appendage -- deafness
     A very rare syndrome characterized mainly by deafness, finger bone abnormalities and a spinal extension giving a tail-like appearance (caudal appendage)....more »
    232. Cephalopolysyndactyly
     A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities. The type and severity of symptoms is variable with many cases remaining undiagnosed because their condition is relative...more »
    233. Cerebro oculo skeleto renal syndrome
     A very rare syndrome characterized mainly by brain, eye, skeletal and kidney abnormalities....more »
    234. Cerebrorenodigital syndrome
     A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities....more »
    235. Cerebrorenodigital syndrome with limb malformations and triradiate acetabula
     A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities as well as an abnormal hip socket....more »
    236. Charcot-Marie-Tooth Disorder
     Degeneration of limb muscles....more »
    237. Charlie M syndrome
     A rare birth disorder characterized by facial abnormalities and malformed or missing parts of the ends of the arms and legs....more »
    238. Chemical poisoning -- Asbestos
     Asbestos is a chemical used in a wide range of materials: heat and sound insulation, wall and ceiling panels, pipe insulation, floor tiles, toasters, cements, brake pads, roofing materials and furnaces. Ingestion and other exposures to the chemical can ca...more »
    239. Chemical poisoning -- Selenium
     Selenium is a chemical element used mainly as an industrial catalyst, in glass and ceramic manufacturing, as an animal feed additive, in photography and in the electronics industry. Ingestion and other exposures to the chemical can cause various symptoms....more »
    240. Chemke-Oliver-Mallek syndrome
     A very rare syndrome characterized mainly by eye and finger and toe abnormalities....more »
    241. Chilblain
     Skin inflammation usually in cold weather...more »
    242. Childhood-onset cerebral X-linked adrenoleukodystrophy
     A rare genetic disorder characterized by progressive degeneration of the protective sheath around nerves resulting in increasing difficulty. The childhood cerebral form of the condition is the most severe....more »
    243. Chitayat Meunier Hodgkinson syndrome
     A very rare syndrome characterized by face and finger abnormalities...more »
    244. Chloramphenicol-induced Sideroblastic anemia
     Chloramphenicol-induced sideroblastic anemia is a blood disorder caused by taking a drug called chloramphenicol. The body has sufficient iron levels but is unable to utilise it properly in red blood cells. The iron becomes abnormally deposited in red bloo...more »
    245. Chlordiazepoxide -- Teratogenic Agent
     There is evidence to indicate that exposure to Chlordiazepoxide (a sedative or hypnotic drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may ...more »
    246. Chlorpheniramine -- Teratogenic Agent
     There is evidence to indicate that exposure to Chlorpheniramine (an antihistamine medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may ...more »
    247. Chlorpromazine -- Teratogenic Agent
     There is evidence to indicate that exposure to Chlorpromazine (a neuroleptic drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected...more »
    248. Chlortetracycline -- Teratogenic Agent
     There is evidence to indicate that exposure to Chlortetracycline (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected b...more »
    249. Cholestatic jaundice -renal tubular insufficiency
     A very rare syndrome characterized by liver and kidney problems....more »
    250. Chondrodysplasia punctata with steroid sulfatase deficiency
     A genetic skeletal and skin disorder involving a deficiency of steroid sulfatase. The skin condition is characterized by large brownish scales which can occur almost anywhere on the skin and can be disfiguring. The face, scalp, palms and soles are usually...more »
    251. Chondrodysplasia punctata, Sheffield type
     A rare genetic disorder characterized by bone anomalies, failure to thrive and unusual facial features. The bone anomalies consists of abnormal calcification in various parts of the body such as the feet, toes, ankle, tailbone, vertebrae, top of thigh, up...more »
    252. Chondrodysplasia, Grebe type
     A rare genetic disorder characterized by dwarfism and various limb deformities....more »
    253. Chondrodysplasia, acromesomelic, with genital anomalies
     A very rare condition characterized by severe limb malformations and genital anomalies. The reported case involved related parents....more »
    254. Chondrodysplasia, type Nance-Sweeney
     A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies....more »
    255. Chondroectodermal dysplasia
     A rare genetic disorder characterized by dwarfism, extra fingers and/or toes and nail and hair abnormalities....more »
    256. Christian-Demyer-Franken syndrome
     A rare syndrome characterized mainly by mental retardation and skeletal abnormalities....more »
    257. Christianson Fourie syndrome
     A very rare syndrome characterized mainly by hair and nail abnormalities....more »
    258. Chromosome 1, deletion q21 q25
     A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, osteoporosis, facial anomalies and hearing loss....more »
    259. Chromosome 1, duplication 1p21 p32
     A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as short stature, newborn or fetal death, small head, undescended testes and various facial abnormalities....more »
    260. Chromosome 1, monosomy 1p22 p13
     A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, short stature, hearing loss and hand defects....more »
    261. Chromosome 1, monosomy 1p31 p22
     A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, missing teeth and small eyes and jaw....more »
    262. Chromosome 1, monosomy 1q25 q32
     A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as digital defects, facial dysmorphism, retarded growth, mental retardation and spasticity....more »
    263. Chromosome 1, monosomy 1q32 q42
     A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as fetal or newborn death, facial dysmorphism, short stature, finger defects and various other anomalies....more »
    264. Chromosome 1, trisomy 1q32 qter
     A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities....more »
    265. Chromosome 1, uniparental disomy 1q12 q21
     A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    266. Chromosome 10 ring syndrome
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 10 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic mate...more »
    267. Chromosome 10, Monosomy 10p
    268. Chromosome 10, distal trisomy 10q
     A rare chromosomal disorder where the distal portion of the long arm of chromosome 10 is duplicated so there is three copies of it instead of the normal two. The condition is characterized by drooping upper eyelid, short palpebral fissures and camptodacty...more »
    269. Chromosome 10, trisomy 10p
     A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicate...more »
    270. Chromosome 10, trisomy 10pter p13
     A rare chromosomal disorder where duplication of a portion of chromosome 10 causes various abnormalities such as a wasted build, gut and heart placement abnormalities and lack of reflexes....more »
    271. Chromosome 10p deletion syndrome
     A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities....more »
    272. Chromosome 10p duplication syndrome
     A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicate...more »
    273. Chromosome 10p duplication/10q deletion syndrome
     A rare chromosomal disorder where a section of the short arm (p) of chromosome 10 is duplicated and a section of the long arm (q) of chromosome 10 is deleted resulting in various abnormalities....more »
    274. Chromosome 10p terminal deletion syndrome
     A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome....more »
    275. Chromosome 11, Partial Monosomy 11q
     A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted....more »
    276. Chromosome 12 ring syndrome
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 12 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic mate...more »
    277. Chromosome 12 trisomy
     A rare chromosomal disorder where there are three copies of chromosome 12 rather than the normal two resulting in various abnormalities....more »
    278. Chromosome 12, 12p trisomy
     A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted....more »
    279. Chromosome 12, Isochromosome 12p Mosaic
     A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities....more »
    280. Chromosome 12, trisomy 12q
     A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on ...more »
    281. Chromosome 12p deletion
     A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted....more »
    282. Chromosome 12p deletion syndrome
     A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities....more »
    283. Chromosome 12p duplication syndrome
     A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted....more »
    284. Chromosome 12p tetrasomy syndrome
     A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities....more »
    285. Chromosome 12q duplication syndrome
     A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy....more »
    286. Chromosome 13 ring syndrome
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic mate...more »
    287. Chromosome 13 trisomy syndrome
     A rare chromosomal disorder where there are three copies of chromosome 13 rather than the normal two resulting in various abnormalities. Most die within months and there are few survivors after 10 years....more »
    288. Chromosome 13, Partial Monosomy 13q
     A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic m...more »
    289. Chromosome 13p duplication
     A rare chromosomal disorder where duplication of a portion of chromosome 13 causes various abnormalities such as mental retardation, short stature, facial dysmorphism, delayed puberty and heart defects....more »
    290. Chromosome 13q deletion
     A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic m...more »
    291. Chromosome 13q duplication syndrome
     A rare chromosomal disorder where the long arm (q) of chromosome 13 is duplicated resulting in various physical, neurological and developmental abnormalities....more »
    292. Chromosome 14q, proximal duplication
     A rare chromosomal disorder where duplication of a portion of chromosome 14 causes various abnormalities such as facial dysmorphism, limb abnormalities, mental retardation and short stature....more »
    293. Chromosome 14q, terminal deletion
     A very rare syndrome caused by a deletion of a part of the material on chromosome 14 and resulting in various abnormalities such as mental retardation and short fingers....more »
    294. Chromosome 15 Ring
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 15 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic mate...more »
    295. Chromosome 15 inverted duplication
     A rare chromosomal disorder involving an duplicated section of chromosome 15 which is reversed end-to-end resulting in various abnormalities....more »
    296. Chromosome 15, trisomy mosaicism
     A rare chromosomal disorder where duplication of a portion of chromosome 15 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction and hand abnormalities....more »
    297. Chromosome 15q duplication mosaicism
     A rare chromosomal disorder where duplication of a portion of chromosome 15 in some of the body's cells causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction and hand abnormalities. The type and severity of symptoms var...more »
    298. Chromosome 15q duplication syndrome
     A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....more »
    299. Chromosome 15q tetrasomy syndrome
     A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities....more »
    300. Chromosome 15q, tetrasomy
     A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the ...more »
    301. Chromosome 15q, trisomy
     A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....more »
    302. Chromosome 15q13.3 microdeletion syndrome
     A genetic disorder characterized by the deletion of a small portion of genetic material at the chromosomal location of 15q13.3. A rare syndrome characterized mainly by seizures, mental retardation, and slightly unusual facial features....more »
    303. Chromosome 15q26-qter Deletion Syndrome
     A rare disorder where a portion of genetic material on a particular chromosomal location (15q26-qter) is missing which manifests in a variable range of symptoms....more »
    304. Chromosome 16p, partial duplication
     A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....more »
    305. Chromosome 16q, partial duplication
     A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material. Severe cases often result in sponta...more »
    306. Chromosome 17 ring
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic mate...more »
    307. Chromosome 17, deletion 17q23 q24
     A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material....more »
    308. Chromosome 17p, partial deletion
     A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material....more »
    309. Chromosome 17p, partial duplication
     A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....more »
    310. Chromosome 17q, partial duplication
     A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....more »
    311. Chromosome 18 Ring
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 18 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic mate...more »
    312. Chromosome 18 deletion syndrome
     A rare chromosomal disorder where a portion of chromosome 18 is missing....more »
    313. Chromosome 18, Tetrasomy 18p
     A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities....more »
    314. Chromosome 18, trisomy 18q
     A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....more »
    315. Chromosome 18q, partial deletion
     A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the lost genetic material....more »
    316. Chromosome 18q- Syndrome
     A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms is determined by the amount of genetic material that is missing....more »
    317. Chromosome 19 ring syndrome
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 19 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic mate...more »
    318. Chromosome 19p duplication syndrome
     A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities....more »
    319. Chromosome 19q13.11 Deletion syndrome
     A rare genetic syndrome involving features such as poor fetal growth, reduced fetal activity, developmental problems and various other physical symptoms....more »
    320. Chromosome 1p deletion syndrome
     A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    321. Chromosome 1p duplication syndrome
     A rare chromosomal disorder where a portion of the short arm (p) of chromosome 1 is duplicated so there is three copies of it rather than the normal two....more »
    322. Chromosome 1q deletion
     A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    323. Chromosome 1q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    324. Chromosome 2, monosomy 2pter p24
     A very rare chromosomal disorder where a portion of chromosome 2 is deleted resulting in a range of birth defects and abnormalities....more »
    325. Chromosome 2, monosomy 2q
     A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    326. Chromosome 2, monosomy 2q24
     A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2....more »
    327. Chromosome 2, monosomy 2q37
     A very rare chromosomal disorder where a part of the long arm of chromosome 2 is missing which results in various birth defects and abnormalities. The features of the disorder are determined by the exact size and location of the deletion....more »
    328. Chromosome 2, trisomy 2p
     A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two....more »
    329. Chromosome 2, trisomy 2q
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    330. Chromosome 20q duplication syndrome
     A rare chromosomal disorder involving a duplication of the long arm (q) of chromosome 20 resulting in various physical and developmental abnormalities....more »
    331. Chromosome 21 monosomy
     A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities....more »
    332. Chromosome 21, tetrasomy 21q
     A rare chromosomal disorder where there is four copies of the long arm of chromosome 21 instead of the normal two which results in various physical and mental anomalies....more »
    333. Chromosome 21q deletion syndrome
     A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 21 is missing. The symptoms or severity may vary somewhat between patients....more »
    334. Chromosome 22 Ring
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 22 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic mate...more »
    335. Chromosome 22 monosomy syndrome
     A rare chromosomal disorder where there is only one copy of chromosome 22 in the body cells instead of two which results in various physical and mental abnormalities....more »
    336. Chromosome 22 trisomy mosaic
     A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material....more »
    337. Chromosome 22, monosome mosaic
     A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is delet...more »
    338. Chromosome 22, monosomy mosaic
     A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies....more »
    339. Chromosome 22, trisomy
     A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage....more »
    340. Chromosome 22q deletion
     A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients....more »
    341. Chromosome 22q deletion syndrome
     A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities....more »
    342. Chromosome 22q13 deletion
     A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities....more »
    343. Chromosome 22q13.3 deletion syndrome
     A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13.3 location which results in various abnormalities....more »
    344. Chromosome 2p deletion syndrome
     A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    345. Chromosome 2p duplication syndrome
     A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two....more »
    346. Chromosome 2p16.1-p15 Deletion Syndrome
     A rare genetic disorder characterized by a range of manifestations including mental retardation and skull and facial anomalies....more »
    347. Chromosome 2q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    348. Chromosome 3, monosomy 3p
     A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and polydactyly....more »
    349. Chromosome 3, trisomy 3p
     A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two....more »
    350. Chromosome 3, trisomy 3q
     A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair gro...more »
    351. Chromosome 4 Ring
     A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion....more »
    352. Chromosome 4 ring syndrome
     A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion....more »
    353. Chromosome 4, Monosomy 4q
     A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities....more »
    354. Chromosome 4, trisomy 4p
     A rare chromosomal disorder where a portion of chromosome four is duplicated so there is three copies of it instead of the normal two....more »
    355. Chromosome 4q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    356. Chromosome 5, Trisomy 5p
     A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated....more »
    357. Chromosome 5, trisomy 5q
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    358. Chromosome 5p duplication syndrome
     A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated....more »
    359. Chromosome 5p tetrasomy syndrome
     A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 5 rather than the normal two copies....more »
    360. Chromosome 5q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    361. Chromosome 6, monosomy 6p23
     A very rare chromosomal disorder characterized by various abnormalities including mental retardation, facial, finger and toe anomalies as well as heart, skeletal and neurological problems....more »
    362. Chromosome 6, monosomy 6q
     A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material....more »
    363. Chromosome 6, partial trisomy 6q
     Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable....more »
    364. Chromosome 6, trisomy 6q
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    365. Chromosome 6p deletion syndrome
     A rare chromosomal disorder where part or all of the short arm (p) of chromosome 6 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    366. Chromosome 6q deletion syndrome
     A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material....more »
    367. Chromosome 6q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    368. Chromosome 7 deletion p21-p22.1
     A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities....more »
    369. Chromosome 7, Partial Deletion of Short Arm
     A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion....more »
    370. Chromosome 7, monosomy 7q3
     A very rare chromosomal disorder involving a deletion of material from chromosome 7 at a location known as q3 which results in a wide range of abnormalities....more »
    371. Chromosome 7, partial monosomy 7p
     A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion....more »
    372. Chromosome 7, trisomy 7p
     A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated....more »
    373. Chromosome 7, trisomy 7q
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    374. Chromosome 7p deletion syndrome
     A rare chromosomal disorder where part or all of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    375. Chromosome 7p duplication syndrome
     A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated....more »
    376. Chromosome 7q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    377. Chromosome 8 recombinant syndrome
     A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities....more »
    378. Chromosome 8 ring
     A rare chromosomal disorder involving chromosome 8 which causes various abnormalities such as mental retardation, ureter anomalies, finger defects and facial dysmorphism....more »
    379. Chromosome 8 trisomy syndrome
     A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities....more »
    380. Chromosome 8, monosomy 8p
     A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that ...more »
    381. Chromosome 8, mosaic trisomy
     A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells...more »
    382. Chromosome 8, trisomy
     A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is...more »
    383. Chromosome 8, trisomy 8p
     A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated....more »
    384. Chromosome 8, trisomy 8q
     A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted....more »
    385. Chromosome 8p duplication syndrome
     A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated....more »
    386. Chromosome 8p inverted duplication syndrome
     A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of th...more »
    387. Chromosome 8p mosaic tetrasomy
     A rare chromosomal disorder where a part of the short arm of chromosome 8 is repeated four times in some of the body's cells instead of the normal two resulting in various abnormalities....more »
    388. Chromosome 8q deletion syndrome
     A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material....more »
    389. Chromosome 8q duplication syndrome
     A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted....more »
    390. Chromosome 9 trisomy syndrome
     A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities....more »
    391. Chromosome 9, Tetrasomy 9p
     A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities....more »
    392. Chromosome 9, Trisomy 9p (Multiple Variants)
     A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities....more »
    393. Chromosome 9, partial trisomy 9p
     A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic mate...more »
    394. Chromosome 9, trisomy
     A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic m...more »
    395. Chromosome 9, trisomy 9p
     A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is duplicated so there is three copies of it instead of the normal two....more »
    396. Chromosome 9, trisomy 9q
     A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic mater...more »
    397. Chromosome 9/mosaic
     A rare chromosomal disorder where chromosome 9 is duplicated in some of the body's cells resulting in various abnormalities determined by the type and number of cells that contain the extra genetic material....more »
    398. Chromosome 9p tetrasomy syndrome
     A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities....more »
    399. Chromosome 9q duplication
     A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic mater...more »
    400. Chromosome 9q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities....more »
    401. Chromosome 9q duplication/chromosome 9p deletion syndrome
     A rare chromosomal disorder where part of the long arm (q) of chromosome 9 is duplicated and part of the short arm (p) is deleted resulting in various abnormalities. These chromosomal abnormality occurs in only some of the body's cells (mosaicism)....more »
    402. Chromosome diploid-triploid mosaicism syndrome
     A rare chromosomal disorder involving chromosomal duplication, triplication and mosaicism....more »
    403. Chronic Bronchitis
     Chronic bronchitis is a chronic inflammation of the bronchi (medium-size airways) in the lungs....more »
    404. Chronic Inflammatory Demyelinating Polyneuropathy
     A rare disorder involving swelling of nerve roots and destruction of the protective layer around nerves. Severe symptoms can take up to a year or more to develop....more »
    405. Chronic anemia
     Chronic anemia refers to a low blood cell count that has occurred over a longer period of time rather than suddenly. It is associated with chronic disease processes e.g. kidney disease....more »
    406. Chronic liver disease
     Any form of chronic liver disease...more »
    407. Ciclosporin -- Teratogenic Agent
     There is evidence to indicate that exposure to Ciclosporin (an immunosuppressant drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affe...more »
    408. Ciliary dyskinesia-bronchiectasis
     A very rare disorder where the cilia fail to move. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. The lack of ciliary movement can cause a lung disease called bronchiectasis where a b...more »
    409. Cirrhosis of liver
     Chronic liver disease wherein normal liver parenchyma is replaced by fibrous tissue....more »
    410. Classical Potter syndrome
     A term that describes the physical appearance that occurs when kidney disease results in a reduced volume of amniotic fluid. In the classical type, both kidneys are absent....more »
    411. Clayton-Smith Donnai syndrome
     A very rare syndrome characterized by scaly skin and facial and finger anomalies....more »
    412. Cleft lip -- palate -- ectrodactyly
     A very rare syndrome characterized by a cleft lip and palate and missing fingers and toes....more »
    413. Cleft lip palate -- oligodontia -- syndactyly -- pili torti
     A very rare syndrome characterized by a cleft lip and palate, webbed fingers, missing teeth and hair abnormality (pili torti)....more »
    414. Cleft palate -- cardiac defect -- genital anomalies -- ectrodactyly
     A very rare syndrome characterized by variable symptoms including cleft palate, heart defects, genital anomalies and hand and foot malformations....more »
    415. Cleft palate -- heart disease -- polydactyly -- absent tibia
     A rare syndrome characterized by a cleft palate, heart disease, extra digits and an absent shin bone....more »
    416. Cleft upper lip, median -- cutaneous polyps
     A rare birth disorder characterized mainly by a cleft in the upper lip, central nervous system tumors and skin polyps....more »
    417. Cleidocranial dysplasia
     A rare genetic disorder characterized by collarbone defects, late ossification of cranial sutures and delayed tooth eruption....more »
    418. Cleidorhizomelic syndrome
     A very rare inherited syndrome mainly involving skeletal abnormalities....more »
    419. Clomiphene -- Teratogenic Agent
     There is evidence to indicate that exposure to Clomiphene during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure...more »
    420. Clomocycline -- Teratogenic Agent
     There is evidence to indicate that exposure to Clomocycline (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the...more »
    421. Clotrimazole -- Teratogenic Agent
     There is evidence to indicate that exposure to Clotrimazole (an antifungal medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affe...more »
    422. Clouston syndrome
     A rare genetic ectodermal disorder characterized by skin, hair, nail and eye abnormalities....more »
    423. Cocaine -- Teratogenic Agent
     There is evidence to indicate that exposure to Cocaine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure an...more »
    424. Codeine -- Teratogenic Agent
     There is evidence to indicate that exposure to Codeine (an opiate drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the lev...more »
    425. Coffin-Lowry syndrome
     A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers....more »
    426. Cohen Syndrome
     A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth....more »
    427. Cold-induced sweating syndrome 2
     A rare disorder characterized mainly by the inability to sweat in hot weather and excessive sweating on exposure to cold weather....more »
    428. Collins-Dennis-Clarke-Pope Syndrome
     A very rare condition characterized by congenital hip dislocation, flattened facial appearance and congenital heart defects....more »
    429. Coloboma of macula, type B brachydactyly
     A rare disorder characterized by congenital macular colobomas and finger and toe abnormalities....more »
    430. Complete Trisomy 18 syndrome
     Complete Trisomy 18 syndrome is the most severe form of Edwards syndrome and involves an extra copy of chromosome 18 in all of the body cells. This severe form causes mental retardation and numerous physical defects that often cause death before birth or ...more »
    431. Compulsive finger picking
     A form of obsessive compulsive disorder where a person compulsively picks at the skin on their fingers, especially around the nails. Sufferers can feel the pain they inflict on themselves but the feelings of gratification and stress relief prevent them fr...more »
    432. Conditions associated with nail abnormalities
     Nail abnormalities are problems with the color, shape, texture, or thickness of the fingernails or toenails....more »
    433. Congenital arteriovenous shunt
     A rare birth defect involving the abnormal passage of blood between arteries and veins. The range and severity of symptoms is determined by the number, size and location of the arteries and veins involved....more »
    434. Congenital brain dysgenesis due to glutamine synthetase deficiency
     A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in severe brain malformations and infant death with...more »
    435. Congenital cardiovascular malformations
     The abnormal development of heart blood vessels. Specific examples of this condition includes hypoplastic left heart syndrome, coarctation and tricuspid atresia....more »
    436. Congenital disorder of glycosylation type 1H
     Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ih is caused by a defect on chromosome 11pter-p1...more »
    437. Congenital disorder of glycosylation type 1J
     Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ij is caused by a defect on chromosome 11q23.3 a...more »
    438. Congenital microgastria limb reduction defect
     A rare syndrome characterized by micrograstia and limb reduction as well as other abnormalities....more »
    439. Congenital spherocytic anemia
     Congenital Spherocytic anemia is an inherited blood disorder characterized by red blood cells that are shaped like a sphere (spherocytes) rather than the normal doughnut shape. These abnormal cells are broken down prematurely resulting in a shortage of re...more »
    440. Conjugated estrogens -- Teratogenic Agent
     There is evidence to indicate that exposure to Conjugated estrogens during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level o...more »
    441. Conotruncal heart malformations
     A rare group of heart defect involving the outflow tracts. Examples include truncus arteriosus, transposition of great arteries and tetralogy of Fallot. Obviously the symptoms will be determined by which specific defect is involved....more »
    442. Copper deficiency-induced Sideroblastic anemia
     Copper deficiency-induced sideroblastic anemia is a blood disorder caused insufficient quantities of copper. The body has sufficient iron levels but is unable to utilise it properly in red blood cells due to the lack of copper. The iron becomes abnormally...more »
    443. Cormier Rustin Munnich syndrome
     Deficiency of certain chemicals involved in the respiratory chain can result in various malformation depending on the chemical involved and the degree of deficiency....more »
    444. Cornelia de Lange Syndrome
     A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. The severity of symptoms is variable....more »
    445. Cornelia de Lange syndrome 1
     A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable....more »
    446. Cornelia de Lange syndrome 2
     A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 2 is not as severe as type 1 with some of the abnormalities not presenting until later in life or absent altogether. The range a...more »
    447. Cornelia de Lange syndrome 3
     A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 3 is a very mild form of the disorder and is typified by mildly unusual facial appearance and no skeletal or limb malformations....more »
    448. Corneodermatoosseous syndrome
     A very rare syndrome characterized mainly by thick, scaly skin on the palms and soles, corneal changes and dental problems....more »
    449. Coronal synostosis, syndactyly and jejunal atresia
     A very rare syndrome characterized mainly by webbed toes, blocked small intestine and premature fusion of certain skull bones (coronal)....more »
    450. Corpus callosum agenesis -- blepharophimosis -- Robin sequence
     A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms....more »
    451. Corpus callosum agenesis -- polysyndactyly
     A rare syndrome characterized by skin and gastrointestinal defects, extra digits and skull and facial anomalies....more »
    452. Corpus callosum agenesis double urinary collecting
     A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder....more »
    453. Corpus callosum agenesis double urinary collecting system and trigonocephaly
     A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder....more »
    454. Corpus callosum, agenesis of, blepharophimosis Robin type
     A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms....more »
    455. Cortical hyperostosis-syndactyly
     A rare genetic disorder characterized by webbed fingers and thickening and overgrowth of bones....more »
    456. Costello syndrome
     A rare genetic disorder characterized by papillomas which may become malignant....more »
    457. Cote-Katsantoni syndrome
     A rare condition characterized by osteosclerosis, atrial septal defect, malabsorption, neutropenia, ectodermal dysplasia, growth retardation and mental retardation....more »
    458. Coumarin Derivatives -- Teratogenic Agent
     There is evidence to indicate that exposure to Coumarin Derivatives during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level o...more »
    459. Cousin Walbrau Cegarra Syndrome
    460. Cranio osteoarthropathy
     A very rare syndrome characterized by large fontanelles, joint problems and finger clubbing....more »
    461. Cranioacrofacial syndrome
     A very rare syndrome characterized mainly by heart, hand, facial and skull anomalies....more »
    462. Craniodigital syndrome -- mental retardation
     A very rare syndrome characterized by webbed fingers and toes, mental retardation and skull and facial anomalies....more »
    463. Cranioectodermal dysplasia
     A rare condition involving various congenital deformities such as short stature, long head, widely spaced eyes and teeth abnormalities....more »
    464. Craniofrontonasal Syndrome
     A congenital condition with multiple anomalies associated with mental retardation and skeletal disfigurement....more »
    465. Craniofrontonasal dysplasia
     A rare genetic disorder mainly found in females and characterized by premature closing of skull bones and craniofacial and limb abnormalities....more »
    466. Craniofrontonasal syndrome Teebi type
     A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities....more »
    467. Craniomicromelic syndrome
     A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth....more »
    468. Craniostenosis with congenital heart disease mental retardation
     A very rare disorder characterized mainly by premature fusion of the sagittal skull bones, mental retardation and heart disease that is present at birth. The disorder generally involves other variable features....more »
    469. Craniosynostosis -- brachysyndactyly of hands and absence of toes
     A rare condition characterized mainly by premature fusion of skull bones, limb defects and a cleft lip or palate....more »
    470. Craniosynostosis Fontaine type
     A very rare disorder characterized primarily by the premature fusion of skull bones, hand, foot and stomach anomalies and a brain malformation (bilateral periventricular nodular heterotopia)....more »
    471. Craniosynostosis Philadelphia type
     A rare disorder characterized primarily by the premature fusion of several skull bones as well as the incomplete separation of fingers and toes (syndactyly). The condition has been reported in five generations of one family....more »
    472. Crisponi syndrome
     A very rare syndrome characterized by excessive muscle contractions in response to stimulus, claw hand, distinctive facial features and fever. Most patients die within months of birth due to complications of hyperthermia but some cases are slowly progress...more »
    473. Cromolyn Sodium -- Teratogenic Agent
     There is evidence to indicate that exposure to Cromolyn Sodium (an asthma preventer) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affect...more »
    474. Crossed polydactyly
     Hand and foot anomalies involving extra digits and webbing. This form is characterized by involvement of the outer part of the hand and the inner part of the feet e.g. extra fingers next to the smallest finger and extra big toes....more »
    475. Crossed polydactyly type 1
     A birth defect where there is an extra big toe combined with and extra finger on the opposite side to the thumb or and extra thumb and an extra toe on the opposite side to the thumb. Webbing of various fingers and toes is also often present....more »
    476. Crossed polysyndactyly
     A rare malformation characterized by an extra finger beside the small finger, duplication of the big toe and webbing of various fingers and toes....more »
    477. Croup
     Respiratory infection with a characteristic cough...more »
    478. Cryptomicrotia -- brachydactyly syndrome
     A very rare syndrome characterized mainly by ear malformations and short fingers and toes....more »
    479. Cryptorchidism -- arachnodactyly -- mental retardation
     A very rare syndrome characterized mainly by undescended testes, long thin fingers and mental retardation....more »
    480. Cushing's symphalangism
     A rare syndrome characterized by deafness and the fusion of joints in the middle of fingers and toes as well as fusion of hand and foot bones....more »
    481. Cyclophosphamide -- Teratogenic Agent
     There is evidence to indicate that exposure to Cyclophosphamide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of ex...more »
    482. Cycloserine-induced Sideroblastic anemia
     Cycloserine -induced sideroblastic anemia is a blood disorder caused by taking a drug called Cycloserine. The body has sufficient iron levels but is unable to utilise it properly in red blood cells. The iron becomes abnormally deposited in red blood cells...more »
    483. Cyclosporin -- Teratogenic Agent
     There is evidence to indicate that exposure to Cyclosporin (an immunosuppressant drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affe...more »
    484. Cyclosporine -- Teratogenic Agent
     There is evidence to indicate that exposure to Cyclosporine (an immunosuppressant drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be aff...more »
    485. Cystic Fibrosis
     Cystic fibrosis is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure....more »
    486. Czeizel-Losonci syndrome
     A very rare syndrome characterized by missing fingers, ureter abnormalities, webbed fingers and toes and abnormal spinal development....more »
    487. Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy
     A very rare syndrome characterized mainly by mental retardation, large head, short fingers, nearsightedness and brain abnormalities (Dandy-Walker type)....more »
    488. Davis-Lafer syndrome
     A very rare syndrome characterized mainly by mental retardation and unusual facial features....more »
    489. De Grouchy Syndrome
     A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted....more »
    490. De Lange 1
     A rare disorder involving a variety of congenital abnormalities including retarded growth, behavioral problems, characteristic facial features and upper limb abnormalities....more »
    491. De Quervains' disease
     Inflammation of the tendons in the thumb which can be very painful. It can be caused by overuse of the thumb or wrist which can occur in activities such as knitting, skiing and lifting heavy objects. The condition primarily occurs in females aged 30 to 50...more »
    492. Deafness -- onychodystrophy -- osteodystrophy -- mental retardation
     A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R)....more »
    493. Deafness conductive -- ptosis -- skeletal anomalies
     A very rare syndrome characterized mainly by deafness, droopy eyelids and skeletal abnormalities....more »
    494. Deafness onychodystrophy dominant form
     A rare dominantly inherited disorder characterized by deafness from birth, deformed nails and...more »
    495. Deafness, congenital onychodystrophy, recessive form
     A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R)....more »
    496. Declomycin -- Teratogenic Agent
     There is evidence to indicate that exposure to Declomycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the l...more »
    497. Declostatin -- Teratogenic Agent
     There is evidence to indicate that exposure to Declostatin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the ...more »
    498. Decreased mean cell haemoglobin
    499. Decreased mean cell haemoglobin concentration
    500. Decreased mean cell volume
    501. Del (2) (p13-p11.2)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    502. Del (2) (q22-q31)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....more »
    503. Del (2) (q24.3-q31)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    504. Del (2) (q37.1-qter) and dup (14) (q31.2-qter)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    505. Del (2) (q37.3-qter) and dup (8) (q24.3-qter))
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    506. Del (3) (pter-25)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in 22 reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    507. Del (3) (pter-p25) and dup (17) (q23-qter)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....more »
    508. Del (3) (pter-p26) and (dup (12) (pter-p13.1)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....more »
    509. Del (3) (q12-q23)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....more »
    510. Del (3) (q13.12-q21.3)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....more »
    511. Del(1) (23-q25)
     A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing....more »
    512. Del(1) (pter-p36.2)
     A very rare chromosomal disorder where the end portion of the short arm of chromosome one is missing. The type and severity of symptoms is variable....more »
    513. Del(1) (q25-q32)
     A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is missing. The range and severity of symptoms is variable....more »
    514. Del(1) (q25.2-q31.2)
     A very rare chromosomal disorder where a portion of the long arm (q25.2-q31.2) of chromosome one is missing....more »
    515. Del(1) (q42-qter)
     A very rare chromosomal disorder where a portion of the long arm (q42-qter) of chromosome one is missing. The type and severity of symptoms is variable....more »
    516. Deletion 10pter
     A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome....more »
    517. Deletion 10q
     A rare disorder caused by the deletion of a portion of chromosome 10q. The range and severity of symptoms is determined by the size of the portion that is deleted....more »
    518. Deletion 18q
     A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted....more »
    519. Deletion 3p
     A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and extra digits....more »
    520. Deletion of the Short Arm of Chromosome 1
     A condition characterized by deletion of the short arm of chromosome 1...more »
    521. Demeclocycline -- Teratogenic Agent
     There is evidence to indicate that exposure to Demeclocycline (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by t...more »
    522. Dermato-cardio-skeletal syndrome Borrone type
     A rare progressive syndrome characterized by skin, heart and skeletal abnormalities....more »
    523. Dermatocardioskeletal syndrome, Boronne type
     A very rare syndrome characterized mainly by thick skin, thick gums, acne, short fingers and a heart defect....more »
    524. Dermatomyositis
     A muscle disease characterized by chronic muscle inflammation resulting in progressive muscle weakness and a characteristic rash....more »
    525. Dermatoosteolysis, Kirghizian type
     A rare condition characterized by a variety of abnormalities including missing teeth, recurring skin ulceration, eye problems and nail symptoms....more »
    526. Dermo-odontodysplasia
     A very rare syndrome characterized mainly by tooth, skin, hair and nail abnormalities....more »
    527. Desbuquois dysplasia
     A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities....more »
    528. Developmental delay -- hypotonia extremities hypertrophy
     A very rare syndrome characterized mainly by poor muscle tone, developmental delay....more »
    529. Dextroamphetamine -- Teratogenic Agent
     There is evidence to indicate that exposure to Dextroamphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of e...more »
    530. Dextrocardia-bronchiectasis-sinusitis
     A genetic disorder characterized by sinusitis, bronchiectasis and situs inversus....more »
    531. DiGeorge syndrome
     22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid...more »
    532. Diabetic neuropathy
     Nerve damage from diabetes affecting any body part; most commonly feet....more »
    533. Diaphanospondylodysostosis
     A rare disorder characterized by bone formation anomalies including a lack of bone formation in the spine during the fetal stage as well as kidney problems....more »
    534. Diaphragmatic defect -- limb deficiency -- skull defect
     A very rare syndrome characterized mainly by a defect in the diaphragm that allows some of the abdominal organs to move into the chest cavity, poor skull calcification and limb abnormalities involving missing or abnormal bones in the arms or legs....more »
    535. Dicoumarol -- Teratogenic Agent
     There is evidence to indicate that exposure to Dicoumarol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure...more »
    536. Dicumarol -- Teratogenic Agent
     There is evidence to indicate that exposure to Dicumarol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure ...more »
    537. Dicyclomine -- Teratogenic Agent
     There is evidence to indicate that exposure to Dicyclomine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...more »
    538. Die-Smulders-Vles-Fryns syndrome
     A very rare disorder characterized by facial anomalies, long thin fingers and mental retardation....more »
    539. Dienestrol -- Teratogenic Agent
     There is evidence to indicate that exposure to Dienestrol (a synthetic form of Viagra) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affe...more »
    540. Diffuse systemic sclerosi
     A rare condition that characterized by skin tightness affecting the trunk and extremities as well as organ involvement. It involves an early period of internal inflammation which distinguishes it from other forms of scleroderma and the organ involvement c...more »
    541. Digitorenocerebral syndrome
     A very rare syndrome characterized by numerous abnormalities involving the brain, kidneys, fingers, toes, nails and face as well as mental retardation and vision impairment....more »
    542. Dilantin -- Teratogenic Agent
     There is strong evidence to indicate that the use of Dilantin (anti-seizure medication) during pregnancy may cause a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be af...more »
    543. Dilor -- Teratogenic Agent
     There is evidence to indicate that exposure to Dilor (a bronchodilator) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the lev...more »
    544. Dimedrol -- Teratogenic Agent
     There is evidence to indicate that exposure to Dimedrol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure a...more »
    545. Dimorphic anemia
     Dimorphic refers to anemia that has two different causes acting together e.g. iron deficiency as well as a Vitamin B12 deficiency....more »
    546. Dincsoy-Salih-Patel syndrome
     A very rare syndrome characterized mainly by a cleft lip and palate, brain abnormality, short limbs and genital abnormalities....more »
    547. Dinno-Shearer-Weisskopf syndrome
     A very rare syndrome characterized mainly by long limbs, tall stature, large head, ataxia and facial anomalies....more »
    548. Diphallus -- rachischisis -- imperforate anus
     A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae....more »
    549. Diphenadione -- Teratogenic Agent
     There is evidence to indicate that exposure to Diphenadione during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposu...more »
    550. Diphenhydramine -- Teratogenic Agent
     There is evidence to indicate that exposure to Diphenhydramine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exp...more »
    551. Diphenoxylate -- Teratogenic Agent
     There is evidence to indicate that exposure to Diphenoxylate (an antidiarrhea drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affecte...more »
    552. Distal arthrogryposis syndrome
     A rare genetic disorder characterized by congenital contractures and other physical defects....more »
    553. Distal arthrogryposis, Moore-Weaver type
     A rare disorder characterized mainly by clenched fists, permanent flexion of toes and fingers and head and facial abnormalities....more »
    554. Distal lateral subungual onychomycosis
     A fungal infection of the nail which tends to involve start under the nail where it separates from the nail bed. This is the most common form of onychomycosis and the toenails tend to be affected more than the fingernails....more »
    555. Distal trisomy 6q
     Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable....more »
    556. Distinctive Craniofacial Features -- Pterygia -- Mental Retardation
     A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies....more »
    557. Double outlet right ventricle
     A very rare birth defect where the aorta and the pulmonary artery both exit from the right ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs. The se...more »
    558. Doxepin -- Teratogenic Agent
     There is evidence to indicate that exposure to Doxepin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure an...more »
    559. Doxycycline -- Teratogenic Agent
     There is evidence to indicate that exposure to Doxycycline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...more »
    560. Drug-induced Sideroblastic anemia
     Drug-induced sideroblastic anemia is a blood disorder caused by drugs such as cycloserine, isoniazid and ethanol. The body has sufficient iron levels but is unable to utilise it properly in red blood cells. The iron becomes abnormally deposited in red blo...more »
    561. Ductus arteriosus, patent reversed flow
     A rare birth defect. During the fetal stage, a connecting tube (ductus arteriosus) joins the pulmonary artery and aorta and hence prevents blood from flowing past the fluid filled lungs. After birth, the tube normally closes off so that the blood can be s...more »
    562. Dunnigan syndrome
     A rare metabolic disorder involving abnormal fat distribution where fat accumulates on areas such as the face, shoulders, neck and genitals but gradually disappears from the limbs, trunk and buttocks....more »
    563. Dunningan syndrome
     A rare metabolic disorder involving abnormal fat distribution where fat accumulates on areas such as the face, shoulders, neck and genitals but gradually disappears from the limbs, trunk and buttocks....more »
    564. Duodenal atresia tetralogy of Fallot
     A rare birth defect characterized by a heart defect and an intestinal malformation where the duodenum is absent or closed off which prevents digested material passing through....more »
    565. Dup (1) (q21.2-qter) and dup (14)(pter-q13)
     A very rare chromosomal disorder where a portion of the long arm (q21.2-qter) of chromosome one and the long arm of chromosome 14 (pter-q13) is duplicated. In the reported case, the fetus was aborted....more »
    566. Dup (1) (q25-qter) and del (18p)
     A very rare chromosomal disorder (single reported case) where the end portion of the long arm (q25-qter) of chromosome one is duplicated and the short arm of chromosome 18 is missing....more »
    567. Dup (1) (q32-qter) and del (7)(q32-qter)
     A very rare chromosomal disorder where a portion of the long arm (q32-qter) of chromosome one is duplicated and the long arm of chromosome 7 (q32) is deleted. There have only been a couple of reported cases and symptoms may vary somewhat between patients....more »
    568. Dup (1) (q42-qter) & del (18p)
     A rare chromosomal disorder which manifests as various physical and mental abnormalities. Patients tend to die within the first couple of decades but the condition is poorly defined....more »
    569. Dup (2) (p25.3-p25.1)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....more »
    570. Dup (2) (pter-p23)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    571. Dup (2) (pter-p23) and del (pter-p15)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    572. Dup (2) (q11.2-q13)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....more »
    573. Dup (2) (q21-q33
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    574. Dup (2) (q32-qter)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    575. Dup (2) (q33-qter)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    576. Dup (3) (pter-p21) and del (18) (q21-qter)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    577. Dup (3) (pter-p23)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in fifteen reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    578. Dup (3) (q12-qter)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....more »
    579. Dup (3) (q25-q26.2)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....more »
    580. Dup (3) (q25-q27)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....more »
    581. Dup (3) (q25-q28)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....more »
    582. Dup (3) (q25-qter)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in a few reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    583. Dup (5)(q22-q23)
     A rare chromosomal disorder involving duplication of a certain section (q22-q23) of the long arm of chromosome 5 which results in various abnormalities....more »
    584. Dup (5)(q31-qter)
     A rare chromosomal disorder involving duplication of a certain section (q31-qter) of the long arm of chromosome 5 which results in various abnormalities....more »
    585. Dup (5)(q32-qter)
     A rare chromosomal disorder involving duplication of a certain section (q32-qter) of the long arm of chromosome 5 which results in various abnormalities....more »
    586. Dup (5)(q33-qter)
     A rare chromosomal disorder involving duplication of a certain section (q33-qter) of the long arm of chromosome 5 which results in various abnormalities....more »
    587. Dup(1) (q24-q31.2)
     A very rare chromosomal disorder where a portion of the long arm (q24-q31.2) of chromosome one is duplicated. In the reported case, death occurred within hours of birth....more »
    588. Duplication 13
     A rare and very severe chromosome disorder leading to mental retardation and physical defects. It is so severe that many babies die soon after birth. The type and severity of symptoms varies depending on the amount and exact location of the genetic materi...more »
    589. Duplication 18
     A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than ...more »
    590. Duplication 5p
     A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated....more »
    591. Duplication 6q, partial
     Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable....more »
    592. Dupuytren's contracture
     A condition where the layer of connective tissue under the skin of the palm of the hand thickens and shrinks which can cause the fingers to bend in to the palms. The bent fingers are usually unable to be fully straightened....more »
    593. Dursun Syndrome
     A rare syndrome characterized mainly by the association of heart anomalies, pulmonary hypertension and leukopenia (reduced number of white blood cells)....more »
    594. Dwarfism -- stiff joint -- ocular abnormalities
     A very rare form of dwarfism characterized by short stature as well as stiff joints and eye abnormalities....more »
    595. Dwarfism -- syndesmodysplasic
     A very rare form of dwarfism involving extremely short stature and progressive joint stiffness....more »
    596. Dwarfism -- tall vertebrae
     A rare form of dwarfism characterized by short stature as well as unusually tall vertebrae and hip deformities....more »
    597. Dwarfism, short-limb -- absent fibulas -- very short digits
     A very rare disorder characterized by short limbs, missing calf bones and very short fingers and toes due to under developed or missing bones....more »
    598. Dyphylline -- Teratogenic Agent
     There is evidence to indicate that exposure to Dyphylline (a bronchodilator) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by th...more »
    599. Dyserythropoietic anemia, congenital type 1
     A very rare genetic blood disorder where abnormal red blood cells are made resulting in anemia. Finger and toe abnormalities are also usually present....more »
    600. Dysgraphia
     Difficulty with writing....more »
    601. Dysharmonic skeletal maturation -- muscular fiber disproportion
     A very rare syndrome characterized mainly by abnormal bone development and muscle problems....more »
    602. Dyshidrotic dermatitis
     A skin disorder (eczema) that affects the soles of the feet, the palms of the hands and the sides of the fingers. There is no known cause but contributing factors include stress, hot or cold weather, pre-existing atopic condition, metal implants, smoking,...more »
    603. Dyskeratosis Congenita
     A rare genetic disorder characterized by sking pigmentation abnormalities, nail dystrophy and mucous membrane changes....more »
    604. Dyslexia
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    605. Dyslexia, Susceptibility to, 1
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    606. Dyslexia, Susceptibility to, 2
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    607. Dyslexia, Susceptibility to, 3
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    608. Dyslexia, Susceptibility to, 4
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    609. Dyslexia, Susceptibility to, 5
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    610. Dyslexia, Susceptibility to, 6
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    611. Dyslexia, Susceptibility to, 7
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    612. Dyslexia, Susceptibility to, 8
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    613. Dyslexia, Susceptibility to, 9
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    614. Dysostosis acral with facial and genital abnormalities
     A very rare inherited disorder characterized by short stature and head, face, skeletal and genital abnormalities. The facial appearance is that of a two-month old fetus. The severity and range of symptoms is variable. This dominantly inherited form of Rob...more »
    615. Dysostosis peripheral
     A rare condition characterized by malformed bones in the hands and feet. The severity of the malformation is variable....more »
    616. Dystonias
     Muscle problems causing movement disorders...more »
    617. Dystrophic epidermolysis bullosa
     A rare inherited skin blistering condition which can vary in severity depending on how it is inherited. Recessively inherited are more severe than dominantly inherited cases and can cause the loss of patches of skin and scarring which can impair limb func...more »
    618. ECP syndrome
     A rare malformation syndrome characterized by a cleft palate and missing fingers....more »
    619. EDS V
     A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility....more »
    620. EEC syndrome without cleft lip/palate
     A rare syndrome characterized mainly by hand, foot deformities as well as hair, skin, nail and tooth abnormalities (ectodermal dysplasia)....more »
    621. Ebstein's anomaly
     A congenital heart defect where the tricuspid valve is deformed. The tricuspid valve in the heart normally has three flaps that control blood flow but in Ebstein's anomaly, one of the flaps remains open instead of closing and allows blood to leak through....more »
    622. Ectodermal dysplasia -- alopecia -- preaxial polydactyly
     A rare syndrome characterized by facial abnormalities, extra toes and sparse or absent hair....more »
    623. Ectodermal dysplasia -- arthrogryposis -- diabetes mellitus
     A rare syndrome characterized by diabetes, short stature and tooth, hair and nail abnormalities....more »
    624. Ectodermal dysplasia -- ectrodactyly -- macular dystrophy
     A rare syndrome characterized mainly by skin, hair, nail and eye abnormalities as well as missing fingers....more »
    625. Ectodermal dysplasia -- mental retardation -- central nervous system malformation
     A rare syndrome characterized by severe mental retardation, hypothyroidism, abnormal brain development and hair, teeth and nail abnormalities....more »
    626. Ectodermal dysplasia -- neurosensory deafness
     A rare syndrome characterized by nerve deafness, abnormally bent fifth fingers, ectodermal dysplasia and scoliosis....more »
    627. Ectodermal dysplasia anhidrotic
     A rare inherited condition involving skin, hair, teeth and nail abnormalities. The condition is characterized by the absence of sweat and sebaceous glands, underdeveloped hair and teeth, characteristic face and other physical deformities....more »
    628. Ectodermal dysplasia mental retardation syndactyly
     A rare syndrome characterized by mental retardation, webbed fingers and hair, nail and teeth abnormalities....more »
    629. Ectodermal dysplasia trichoodontoonychial type
     A rare syndrome characterized by nail, tooth and hair abnormalities....more »
    630. Ectodermal dysplasia, Margarita type
     A rare genetic disorder characterized by mental retardation, webbed digits, cleft lip, cleft palate, sparse hair, reduced sweating and teeth abnormalities. Progressive loss of scalp hair usually results in baldness by adulthood....more »
    631. Ectodermal dysplasia/ skin fragility syndrome
     An extremely rare syndrome characterized by fragile skin which blisters and peels, abnormal nails and thickened skin on palms and soles. Skin blistering and peeling starts at birth....more »
    632. Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 1
     EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ ...more »
    633. Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 3
     EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ ...more »
    634. Ectrodactyly -- polydactyly
     A rare syndrome characterized primarily by extra digits, missing digits, cleft foot or cleft hand....more »
    635. Ectrodactyly cleft palate syndrome
     A rare malformation syndrome characterized by a cleft palate and missing fingers....more »
    636. Ectrodactyly dominant form
     A genetic disorder where fingers or parts of fingers are missing and is often associated with a cleft in the hand. There are many variations of this condition....more »
    637. Ectrodactyly ectrodermal dysplasia
     A rare genetic disorder characterized by missing digits and hair, teeth and nail abnormalities. The severity of the hand and foot malformations is variable....more »
    638. Ectrodactyly, recessive form
     A rare recessively inherited disorder where missing fingers give the hands a "lobster-claw" appearance....more »
    639. Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate
     A rare inherited condition characterized by abnormalities of the fingers, toes, hair, glands, eyes anr urinary tract....more »
    640. Edinburgh malformation syndrome
     A rare syndrome characterized mental and physical retardation, infant death and various other abnormalities....more »
    641. Edward Syndrome
     A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than ...more »
    642. Edwards-Gale Syndrome
     A rare hand and foot abnormality where the fingers and toes are unusually short and the first part of the fingers or toes are held in a fixed contracted position....more »
    643. Ehlers Danlos syndrome type 4, autosomal dominant
     A rare genetic connective tissue disorder characterized by delicate skin, fragile blood vessels, distinctive facial features and minimal joint problems - previously known as EDS type 4....more »
    644. Ehlers-Danlos syndrome
     A group of inherited connective tissue disorders primarily involving the joints and skin. There are 11 disorders in the group....more »
    645. Ehlers-Danlos syndrome Type I
     A rare genetic connective tissue disorder characterized by hyperextensible joints, hyperextensible skin and poor wound healing....more »
    646. Ehlers-Danlos syndrome type 4
     A rare genetic connective tissue disorder characterized by small joint hypermobility, easy bruising and characteristic facial appearance - a vascular or ecchymotic form of the condition....more »
    647. Ehlers-Danlos syndrome type IV
     A rare genetic connective tissue disorder characterized by small joint hypermobility, easy bruising and characteristic facial appearance - a vascular or ecchymotic form of the condition....more »
    648. Ehlers-Danlos syndrome type V
     A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility....more »
    649. Ehlers-Danlos syndrome, classic type
     A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II....more »
    650. Ehlers-Danlos syndrome, vascular type
     A rare genetic connective tissue disorder characterized by delicate skin, fragile blood vessels, distinctive facial features and minimal joint problems - previously known as EDS type 4....more »
    651. Eisenmenger Syndrome
     Increased lung blood pressure that can result from conditions such as a hole in the wall between the two heart chambers....more »
    652. Elejalde syndrome
     A rare congenital syndrome characterized excessive fetal growth, skull abnormalities, extra fingers or toes and other abnormalities....more »
    653. Ellis-van Creveld syndrome
    654. Emanuel syndrome
     A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure t...more »
    655. Emery-Nelson syndrome
     A rare condition characterized by a flat face and hand and foot abnormalities....more »
    656. Emphysema
     Emphysema is a type of chronic obstructive pulmonary disease (COPD). It is defined as an abnormal, permanent enlargement of the air spaces distal to the terminal bronchioles accompanied by destruction of their walls and without obvious fibrosis....more »
    657. Enalapril -- Teratogenic Agent
     There is evidence to indicate that exposure to Enalapril (an ACE inhibitor) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the...more »
    658. Endocrine-Cerebroosteodysplasia
     A rare condition observed in six members from two families. The condition is severe with all affected individuals dying before, during or soon after birth. A number of the pregnancies were voluntarily terminated due to the detected malformations. Endocrin...more »
    659. Eng Strom syndrome
     A rare syndrome characterized by short stature and episodes of locked finger joints....more »
    660. Engelhard-Yatziv syndrome
     A rare syndrome characterized mainly by droopy eyelids, small head and finger and toe abnormalities....more »
    661. Epidermalolysis bullosa
     A group of skin disorders characterized by fragile skin which can blister upon little or no trauma to the skin. There are a number of different subtypes with some being inherited and some acquired. The hands and feet are often the main parts of the body a...more »
    662. Epidermolysis Bullosa Dystrophica, Pretibial
     A rare inherited skin blistering disorder characterized by the development of blisters on the skin and mucous membranes even with minor skin trauma. The skin condition also involves itching which usually doesn't respond to conventional therapies. The blis...more »
    663. Epidermolysis bullosa dystrophica, Bart type
     A rare inherited skin blistering disorder characterized by the development of blisters on the skin and mucous membranes as well as areas of missing skin at birth. Nail abnormalities are also present....more »
    664. Epidermolysis bullosa dystrophica, dominant type
     A relatively mild form of the skin disease characterized by fragile, blistered skin....more »
    665. Epidermolysis bullosa simplex with mottled pigmentation
     A variant of a skin blistering disease which also involved a skin pigmentation anomaly....more »
    666. Epidermolysis bullosa, dermolytic
     A rare genetic syndrome characterized by fragile skin which blisters easily due to defective skin collagen. The mucosal lining of the mouth and even intestines may be effected in severe cases....more »
    667. Epidermolysis bullosa, junctional
     A rare inherited skin disease which is characterized by fragile skin which readily forms skin blisters and can result in fatal complications....more »
    668. Epidermolysis bullosa, simplex
     A group of skin disorders characterized by fragile skin which can blister upon little or no trauma to the skin. There are a number of different subtypes with some being inherited and some acquired. The hands and feet are often the main parts of the body a...more »
    669. Epidermolytic epidermolysis bullosa
     A group of skin disorders characterized by fragile skin which can blister upon little or no trauma to the skin. There are a number of different subtypes with some being inherited and some acquired. The hands and feet are often the main parts of the body a...more »
    670. Epiglotitis
     Inflamation of the epiglottis in the throat...more »
    671. Epimetaphyseal skeletal dysplasia
     A rare syndrome characterized mainly by abnormal bone development....more »
    672. Epiphyseal dysplasia -- hearing loss -- dysmorphism
     A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities....more »
    673. Epiphyseal dysplasia dysmorphism camptodactyly
     A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities....more »
    674. Epiphyseal dysplasia, multiple
     Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. There are 6 different subtypes of the disease, with each caused by a mutation in a different gene....more »
    675. Epiphyseal dysplasia, multiple, 1
     Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. It is caused by a defect in the gene for COMP which is a cartilage protein....more »
    676. Epiphyseal dysplasia, multiple, 2
     Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. It is caused by a defect in the COL9A2 gene....more »
    677. Ergotamine -- Teratogenic Agent
     There is evidence to indicate that exposure to Ergotamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure...more »
    678. Erythromelalgia
     A rare disorder characterized by periods of burning pain, redness and warmth in the feet and hands....more »
    679. Erythromycin -- Teratogenic Agent
     There is evidence to indicate that exposure to Erythromycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the...more »
    680. Escobar syndrome, type B
     A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine....more »
    681. Ethanol-induced Sideroblastic anemia
     Ethanol-induced sideroblastic anemia is a blood disorder caused by consuming ethanol. The body has sufficient iron levels but is unable to utilise it properly in red blood cells. The iron becomes abnormally deposited in red blood cells which make them una...more »
    682. Eye defects -- arachnodactyly -- cardiopathy
     A rare syndrome characterized mainly by eye defects, long, thin fingers and heart disease....more »
    683. Eyebrows duplication of, with stretchable skin and syndactyly
     A rare syndrome characterized mainly by duplication of some of the eyebrow, increased skin elasticity and webbed fingers and toes....more »
    684. Eyebrows duplication syndactyly
     A rare syndrome characterized mainly by duplication of some of the eyebrow, webbed fingers and toes and occasionally increased skin elasticity and other variable symptoms....more »
    685. FACES syndrome
     A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities....more »
    686. FG Syndrome
     A rare genetic disorder characterized by anal abnormalities, reduced muscle tone and a prominent forehead....more »
    687. FG syndrome 1
     A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 1, the genetic defect is located on chromosome Xq12-q21.31....more »
    688. FG syndrome 2
     A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 2, the genetic defect is located on chromosome Xq28....more »
    689. FG syndrome 3
     A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 3, the genetic defect is located on chromosome Xp22.3....more »
    690. FG syndrome 4
     A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 4, the genetic defect is located on chromosome Xp11.4-p11.3....more »
    691. FG syndrome 5
     A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 5, the genetic defect is located on chromosome Xq22.3....more »
    692. FLOTCH syndrome
     A very rare syndrome characterized mainly by kidney stones, completely white nails and cysts that form in oil producing areas of skin....more »
    693. Facio-auriculo-radial dysplasia
     A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm....more »
    694. Faciocardiomelic Syndrome
     A syndrome reported in a family and characterized by various anomalies including mental retardation and bone abnoramlities....more »
    695. Faciodigitogenital syndrome, recessive form
     A rare syndrome characterized by facial, digital and genital abnormalities....more »
    696. Facioskeletalgenital syndrome, Rippberger type
     A rare syndrome characterized by facial, skeletal and genital abnormalities....more »
    697. Faciothoracogenital syndrome
     A rare syndrome characterized by facial, chest and genital abnormalities....more »
    698. Fahr's Syndrome
     A rare neurologic disorder where calcium is deposited in various parts of the brain resulting in progressive loss of motor and mental function....more »
    699. Fairbank disease
     A rare inherited disorder that affects the secondary growth centers of bones usually in the hips, knees and ankles and results in mild dwarfism....more »
    700. Fallot syndrome
     A congenital heart disorder consisting of four heart defects - hole between the ventricles (ventricular septal defect), obstruction from right ventricles to the lungs (subpulmonary stenosis), overriding aorta and thickened right ventricle muscle....more »
    701. Familial emphysema
     A rare genetic form of emphysema caused by a deficiency of alpha-1 antitrypsin (AAT) which results in destruction of the elastin component of the lung structure. The disorder tends to run in families (familial)....more »
    702. Familial interstitial fibrosis
     A rare familial disorder involving fibrosis and scarring of the lung tissue which causes the lung to become stiff and unable to function normally....more »
    703. Familial pulmonary arterial hypertension
     Familial pulmonary arterial hypertension refers to high blood pressure in the arteries that carry blood to the lungs. Blood pressure in other parts of the body is normal or sometimes even low. The condition occurs in a familial pattern i.e. tends to run i...more »
    704. Faye-Petersen-Ward-Carey syndrome
     A very rare syndrome characterized by excess fluid in the skull, a blood disorder and bone and bone abnormalities....more »
    705. Felty Syndrome
     A rare complication of long-term rheumatoid arthritis which involves an enlarged spleen and blood abnormalities....more »
    706. Femoral facial syndrome
     A rare genetic disorder characterized by underdeveloped femur, short nose and cleft palate....more »
    707. Femur-fibula-ulna syndrome
     A very rare syndrome characterized mainly by abnormalities of the thigh, forearm and calf bone. The degree of abnormality and number of limbs involved is variable. The upper limbs are affected more than the lower limbs and the right side is affected more ...more »
    708. Fenton-Wilkinson-Toselano syndrome
     A rare syndrome characterized mainly by ataxia, light sensitivity and short stature....more »
    709. Fernhoff-Blackston-Oakley syndrome
     A very rare syndrome characterized mainly by retarded fetal growth and jaw anomaly as well as various other abnormalities....more »
    710. Fetal aminopterin syndrome
     A rare disorder which produces multiple abnormalities and results from a failed abortion attempt using the drugs aminopterin and methotrexate....more »
    711. Fetal minoxidil syndrome
     Fetal exposure to minoxidil which can pass from the mother to the fetus through the placenta. Minoxidil is a blood vessel dilator mainly used to treat high blood pressure but has other uses as well. Increased body hair is the main consistent effect of exp...more »
    712. Fetal warfarin syndrome
     A rare disorder caused by fetal exposure to warfarin (anticoagulant) and resulting in physical, neurological and mental abnormalities....more »
    713. Fibrochondrogenesis
     A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death....more »
    714. Fibula aplasia complex -- brachydactyly
     A very rare syndrome characterized mainly by short fingers small or absent fibula (calf bone) and other bone abnormalities....more »
    715. Fibular aplasia -- ectrodactyly
     A very rare syndrome characterized mainly by various bone abnormalities involving the arms and feet....more »
    716. Fibular hypoplasia or aplasia -- femoral bowing -- oligodactyly
     A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone)....more »
    717. Filippi Syndrome
     A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features....more »
    718. Finger conditions
     Conditions that affect the fingers...more »
    719. Finger sprain
     Damage to ligaments in a finger....more »
    720. Finlay-Markes syndrome
     A very rare syndrome characterized mainly by scalp, nipple and ear abnormalities....more »
    721. Fischer Syndrome
     A rare condition characterized by unusual facial appearance, thickened skin on palms and soles, physical and mental delay and various other anomalies....more »
    722. Fitzsimmons-Guilbert syndrome
     A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly....more »
    723. Fitzsimmons-McLachlan-Gilbert syndrome
     A very rare syndrome characterized mainly by mental retardation paraplegia and thickened coarse skin on palms and soles....more »
    724. Fitzsimmons-Walson-Mellor syndrome
     A very rare syndrome characterized mainly by spastic paraplegia, progressive kidney disease and deafness....more »
    725. Floating Harbor Syndrome
     A rare genetic disorder characterized by growth deficiency, typical facial appearance and speech delay....more »
    726. Flucytosine -- Teratogenic Agent
     There is evidence to indicate that exposure to Flucytosine (an antifungal drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by...more »
    727. Fluorouracil -- Teratogenic Agent
     There is evidence to indicate that exposure to Fluorouracil (a chemotherapy drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected ...more »
    728. Fluoxetine -- Teratogenic Agent
     There is evidence to indicate that exposure to Fluoxetine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure...more »
    729. Flurazepam -- Teratogenic Agent
     There is evidence to indicate that exposure to Flurazepam during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure...more »
    730. Focal dermal hypoplasia
     A rare genetic disorder characterized by bone, skin, teeth and pigmentation abnormalities as well as asymmetry of the face, trunk and extremities....more »
    731. Folate-deficiency anemia
     Folate-deficiency anemia is a blood condition characterized by low levels of folate in the body which leads to a reduction in the number of red blood cells. It is usually the result of a poor diet, malabsorption issues or the use of certain medications....more »
    732. Fosinopril -- Teratogenic Agent
     There is evidence to indicate that exposure to Fosinopril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure...more »
    733. Frank-Ter Haar syndrome
     A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities....more »
    734. Fraser-Jequier-Chen syndrome
     A very rare disorder characterized by a cleft epiglottis and larynx, extra fingers and toes and kidney, pancreatic and bone abnormalities. The internal organs are also located on the opposite side of the body to normal (situs inversus totalis)....more »
    735. Freire-Maia syndrome
     An extremely rare syndrome characterized by tooth, hair and limb abnormalities. The abnormalities can be quite severe in some cases. The parents may have been related in the reported cases....more »
    736. Frias syndrome
     A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies....more »
    737. Friedel Heid Grosshans syndrome
     A very rare syndrome characterized mainly by kidney stones, completely white nails and cysts that form in oil producing areas of skin....more »
    738. Frints -- De Smet -- Fabry -- Fryns syndrome
     A rare syndrome characterized by a variation of Larsen syndrome where the physical manifestations are asymmetrical. This is believed to be a mosaic form of the genetic condition where the genetic anomaly is present in only some of the body's cells leading...more »
    739. Frontometaphyseal dysplasia
     A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles....more »
    740. Froster-Iskenius-Waterson syndrome
     A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles....more »
    741. Fryns Syndrome
     A rare genetic disorder characterized by diaphragmatic abnormalities, coarse face and abnormal growth or development of ends of fingers and toes....more »
    742. Fryns-Smeets-Thiry syndrome
     A rare syndrome characterized by short stature, mental retardation, small head, skeletal anomalies and various other abnormalities....more »
    743. Fuhrmann syndrome
     A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone)....more »
    744. Fuhrmann-Rieger-de Sousa syndrome
     A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone)....more »
    745. Fukuda-Miyanomae-Nakata syndrome
     A rare syndrome characterized mainly tooth, bone and nail abnormalities as well as anal and urethral anomalies....more »
    746. Fukuyama type muscular dystrophy
     A rare inherited muscle wasting disease occurring predominantly in Japan and characterized by mental retardation and muscle weakness from infancy....more »
    747. Fungal nail infections
     Fungal conditions of the toenail or fingernail...more »
    748. GOMBO syndrome
     A rare syndrome characterized by retarded growth, eye abnormalities, short fingers and mental deficiency (oligophrenia)....more »
    749. Gamma Hydroxybutyric Acid -- Teratogenic Agent
     There is evidence to indicate that exposure to Gamma Hydroxybutyric Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the le...more »
    750. Garret-Tripp syndrome
     A rare syndrome characterized mainly by extra digits, a lack of hair and scaly skin on the scalp, face and neck....more »
    751. Generalized pustular psoriasis
     This is a rare form of psoriasis is also known as von Zumbusch psoriasis. It can be life-threatening especially in the elderly. It is characterized by the development of pustules in the flexural areas - the backs of the knees, the insides of the elbows, t...more »
    752. Genoa syndrome
     A rare disorder characterized mainly by premature fusion of skull bones and partial separation of the two brain halves....more »
    753. Gerstmann's Syndrome
     Brain defect causing various cognitive problems....more »
    754. Gigantism partial -- nevi -- hemihypertrophy -- macrocephaly
     A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body....more »
    755. Glass chapman hockley syndrome de
     A rare syndrome characterized mainly by short fingers, facial anomalies and premature fusion of skull bones giving the head an abnormal shape....more »
    756. Glioma
     A rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and location of ...more »
    757. Glioma Susceptibility
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    758. Glioma Susceptibility 1
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    759. Glioma Susceptibility 2
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    760. Glioma Susceptibility 3
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    761. Glioma Susceptibility 4
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    762. Glioma Susceptibility 5
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    763. Glioma Susceptibility 6
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    764. Glioma Susceptibility 7
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    765. Glioma Susceptibility 8
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    766. Gloomy syndrome
     A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected....more »
    767. Glutamine deficiency, congenital
     A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in infant death within weeks of birth....more »
    768. Goldblatt-Wallis syndrome
     A very rare syndrome characterized by mental retardation and an abnormally placed urethral opening in males....more »
    769. Golden-Lakin syndrome
     A rare syndrome characterized by a webbed neck, sunken chest, curved spine and various other abnormalities....more »
    770. Gollop Coates syndrome
     A very rare type of arm malformation involving only one arm. The lower part of the upper arm bone is forked as well as the absence of some digits and fusion of others....more »
    771. Gomez and Lopez-Hernandez syndrome
     A rare genetic condition characterized by various abnormalities such as mental deficiency, small head, short stature, eye problems and movement problems....more »
    772. Goossens-Devriendt syndrome
     A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers....more »
    773. Gorlin-Bushkell-Jensen syndrome
     A rare disorder characterized by the development of numerous sebaceous cysts (mainly on the back, chest, arms, thighs and scrotum) as well as kidney stones and white nails....more »
    774. Gorlin-Chaudhry-Moss Syndrome
     A very rare inherited condition involving various physical and mental abnormalities....more »
    775. Gout
     Painful joints, most commonly the big toe....more »
    776. Graeck-Imerslund disease
    777. Grange syndrome
     A rare syndrome characterized by the abnormal narrowing of various arteries, high blood pressure, heart defects, fragile bones and short, webbed digits. The congenital heart defects are not present in all cases....more »
    778. Grasbeck-Imerslund Disease
     A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten....more »
    779. Green nail syndrome
     A nail infection caused by Pseudomonas aeruginosa and sometimes Aspergillus. The infection tends to occur in women who spend a lot of time with their hands in soapy water or detergents. The nails develop varying patterns of greenish discoloration....more »
    780. Greig Cephalopolysyndactyly Syndrome
     A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities....more »
    781. Griseofulvin -- Teratogenic Agent
     There is evidence to indicate that exposure to Griseofulvin (an antifungal drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected b...more »
    782. Grix-Blankenship-Peterson syndrome
     A very rare syndrome characterized mainly by mental retardation, bone defects and head and face abnormalities....more »
    783. Grob syndrome
     A rare disorder characterized by a partial lack of hair, epicanthus, cleft lip and palate, mental deficiency, short fingers and various other anomalies....more »
    784. Growth deficiency brachydactyly unusual facies
     A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies....more »
    785. Guaifenesin -- Teratogenic Agent
     There is evidence to indicate that exposure to Guaifenesin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...more »
    786. Gurrieri-Sammito-Bellussi syndrome
     A rare syndrome characterized by epilepsy, short stature and skeletal abnormalities....more »
    787. Haim-Munk syndrome
     A rare inherited disorder involving red, thickened patches of skin on the palms and soles, skin infections and nail and teeth abnormalities....more »
    788. Halal Setton Wang syndrome
     A very rare syndrome characterized mainly by eye, teeth, nail and skin abnormalities....more »
    789. Halal syndrome
     A very rare syndrome characterized mainly by a small head and a cleft palate....more »
    790. Hall-Riggs mental retardation syndrome
     A rare inherited disorder characterized by mental retardation, distinctive facial features and various bone abnormalities....more »
    791. Hamman-Rich syndrome
     A rare acute lung disease where the lung sufferers progressive inflammation and fibrosis which often leads to death....more »
    792. Hand neuropathy
     Neuropathy (nerve damage) affecting the hands...more »
    793. Hand-foot-uterus syndrome
     A rare genetic condition characterized by hand, foot and uterus abnormalities....more »
    794. Hanhart Syndrome
     An autosomal recessive disorder due to a deficiency in the body of the tyrosine amino transferase enzyme....more »
    795. Hapnes-Boman-Skeie syndrome
     A rare disorder where the abnormal attachment of tendons in the fingers prevents them from opening and closing normally....more »
    796. Harrod Doman Keele syndrome
     A very rare syndrome characterized mainly by skull, facial, genital, finger and toe abnormalities....more »
    797. Haspeslagh Fryns Muelenaere syndrome
     A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies....more »
    798. Hay-Wells Syndrome
     A rare genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate....more »
    799. Hay-Wells syndrome, recessive type
     A rare recessively inherited genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. The recessive form of this condition is distinguished by the presence at birth of adhesions between the upper and lowe...more »
    800. Heart cancer
     A malignancy that is located in the heart...more »
    801. Heart defect, tongue hamartoma and polysyndactyly
     A very rare syndrome characterized mainly by webbed fingers, congenital heart defects and tongue tumors....more »
    802. Heart-hand syndrome, Slovenian type
     A rare disorder characterized by heart and hand abnormalities....more »
    803. Heart-hand syndrome, Spanish type
     A very rare syndrome characterized mainly by heart and hand abnormalities....more »
    804. Hemolytic anemia
     Hemolytic anemia is a term used to describe the premature desctruction of red blood cells. Red blood cells are normally broken down every 3-4 months and replaced but in haemolytic anemia the red blood cells are broken down at a faster rate than they can b...more »
    805. Heparin -- Teratogenic Agent
     There is evidence to indicate that exposure to Heparin (an anticoagulant drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by ...more »
    806. Herbal Agent adverse reaction -- Senna
     Senna can be used to treat constipation or to prepare the colon for a rectal examination. The herbal agent can cause an adverse reaction in some people....more »
    807. Hereditary hypothyroidism
     Hereditary hypothyroidism is a condition in which there is a defect in the thyroid gland which leads to increased production of TSH reduced production of thyroid hormone....more »
    808. Hereditary koilonychia
     An inherited anomaly where the nails are flattened or concave-shaped rather than the normal curved shape....more »
    809. Hereditary neuropathy with liability to pressure palsies
     A rare disorder where the peripheral nerves are more sensitive to pressure than normal which results in recurring periods of numbness, tingling and sometimes loss of muscle function. The condition can affect one or more nerves such as the carpal tunnel ne...more »
    810. Herrmann Opitz arthrogryposis syndrome
     A very rare syndrome characterized mainly by contractures, skeletal abnormalities and short stature....more »
    811. Herrmann-Opitz craniosynostosi
     A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and an unusual facial appearance....more »
    812. Hexachlorophene -- Teratogenic Agent
     There is evidence to indicate that exposure to Hexachlorophene during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exp...more »
    813. Hidrotic ectodermal dysplasia, type Christianson-Fourie
     A very rare syndrome characterized mainly by hair and nail abnormalities....more »
    814. Hirschsprung disease type D brachydactyly
     A developmental defect of the intestinal tract where the muscles of the intestines are unable to function and move food along the digestive tract. This form of Hirschsprung disease also involves finger and toe abnormalities....more »
    815. Histidinuria, renal tubular defect
     A very rare syndrome where a kidney defect causes high levels of histidine in the urine....more »
    816. Holoprosencephaly -- ectrodactyly -- cleft lip/palate
     A very rare syndrome characterized mainly by a cleft hand, lip and/or palate and the failure of the brain to separate into two lobes....more »
    817. Holoprosencephaly, recurrent infections, and monocytosis
     A rare syndrome characterized by recurring infections and a brain anomaly. Death usually occurs during the first years of life due to sepsis....more »
    818. Holt-Oram Syndrome
     A rare inherited disorder characterized by hand, arm and heart abnormalities. Bone abnormalities usually affect the left arm more than the right and occasionally only one arm and/or hand is affected....more »
    819. Holzgreve-Wagner-Rehder syndrome
     A rare genetic disorder characterized by extra fingers, cleft palate, heart abnormalities, growth retardation and various other anomalies....more »
    820. Homocystinuria
     A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body....more »
    821. Homocystinuria due to cystathionine beta-synthase deficiency
     A rare genetic biochemical disorder where a deficiency of cystathionine beta-synthase results in high levels of methionine and homocysteine in the blood and reduced levels of cyteine in the blood. There are two subtypes of the disorder with varying manife...more »
    822. Homocystinuria syndrome
     A rare genetic connective tissue disorder caused by an enzyme deficiency and characterized by dislocation of eye lens, malar flush and osteoporosis....more »
    823. Hoon-Hall syndrome
     A very rare syndrome characterized mainly by dislocated joints and various other skeletal abnormalities....more »
    824. Houlston ironton temple syndrome de
     A rare syndrome characterized by forearm abnormality, heart defect and an eye anomaly called blepharophimosis....more »
    825. Howard-Young syndrome
     A very rare syndrome characterized mainly by a small head, facial cleft and an extra big toe....more »
    826. Humerus, trochlea, aplasia of
     A very rare syndrome characterized by arm abnormalities primarily involving the absence of a part of the upper arm called the trochlea. The trochlea is the end of the arm bone which allows arm movement through it's pulley-like structure....more »
    827. Hunter-Carpenter-Macdonald syndrome
     A very rare syndrome characterized by various abnormalities including small head, facial anomalies, mental retardation and hair, skin and nail anomalies. Fetal exposure to alcohol is believed to be a factor in the syndrome....more »
    828. Hunter-MacDonald syndrome
     A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas....more »
    829. Huntington's Disease
     Inherited disease causing progressive mental deterioration....more »
    830. Hutchinson Gilford Syndrome
     A rare genetic disorder characterized by alopecia and senile-like appearance....more »
    831. Hydrolethalus syndrome
     A rare genetic disorder characterized by hydrocephalus, micrognathia and polydactyly....more »
    832. Hydrops ectrodactyly syndactyly
     A very rare disorder characterized mainly be webbed fingers and toes, hand defect and hydrops (abnormal accumulation of fluid in the fetus)....more »
    833. Hydroxychloroquine -- Teratogenic Agent
     There is evidence to indicate that exposure to Hydroxychloroquine (an antimalarial drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be af...more »
    834. Hyperchromic Anemia
     Hyperchromic anemia is a blood disorder characterized by red blood cells which contain abnormally high amounts of haemoglobin as well as a reduced number of red blood cells. This anomaly is often caused by such things as Vitamin B12 deficiency and pernici...more »
    835. Hyperphalangism -- dysmorphy -- bronchomalacia
     A very rare syndrome characterized mainly by finger and toe abnormalities, unusual facial features and narrowed airways....more »
    836. Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, And Hypogonadism
     A rare syndrome characterized by various skin and nail anomalies as well as other problems....more »
    837. Hypocalcemia
     Low levels of calcium in the blood...more »
    838. Hypochondroplasia
     A rare genetic disorder characterized by short stature which becomes more obvious during and after childhood....more »
    839. Hypodontia -- nail dysgenesis
     A syndrome that is characterized by the occurrence of nail dysplasia and tooth abnormalities. Primary teeth are usually normal but some secondary teeth may be missing. The toenails tend to be more affected than the fingernails....more »
    840. Hypomelanosis of Ito
     A rare genetic neurocutaneous disorder characterized by unusual patterns of depigmented skin and associated disorders such as seizures, psychomotor retardation and eye abnormalities....more »
    841. Hypomelia -- mullerian duct anomalies
     A rare genetic disorder characterized by severely underdeveloped arms and uterine and vaginal abnormalities....more »
    842. Hypoparathyroidism familial isolated
     A rare familial condition involving low levels of parathyroid hormone which upsets the body's ability to regulate calcium and phosphate. The severity of symptoms is determined by the how low the parathyroid hormone level is....more »
    843. Hypoplasia of the tibia with polydactyly
     A very rare syndrome characterized mainly by an extra little finger and toe as well as an underdeveloped shin bone....more »
    844. Hypoplastic thumbs -- hydranencephaly
     A very rare syndrome characterized mainly by underdeveloped thumb and abnormal brain development where the cerebral space is filled with cerebrospinal fluid instead of brain tissue....more »
    845. Hypotelorism -- cleft palate -- hypospadias
     A very rare syndrome characterized mainly by an abnormally placed urethral opening, cleft palate and close set eyes....more »
    846. Hypothalamic hamartomas
     A benign congenital tumor that develops on or near the hypothalamus....more »
    847. Hypothyroid goitre
     Goitre is the enlargement of the thyroid gland and hypothyroid state is characterized by increased TSH levels and decreased T3 and T4 levels circulating in the body....more »
    848. Hypothyroidism postaxial polydactyly mental retardation
     A very rare syndrome characterized by abnormally low thyroid levels, extra digits, mental retardation and unusually facial appearance....more »
    849. Hypotrichosis, syndactyly and retinal degeneration
     A rare syndrome characterized by reduced hair, syndactyly and retinal degeneration. The hand and finger anomalies are variable....more »
    850. I cell disease
     A rare inherited biochemical disorder characterized by the harmful accumulation of chemicals (glycoproteins and glycoplipids) due to the deficiency of an enzyme (UDP-N-acetylglucosamine-I-phosphotransferase)....more »
    851. Ibuprofen -- Teratogenic Agent
     There is evidence to indicate that exposure to Ibuprofen during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure ...more »
    852. Ichthyosiform erythroderma, nonbullous congenital
     A rare inherited skin disorder characterized by redness, scaling and ultimately thickening of the skin that occurs from birth. The severity of the condition is variable....more »
    853. Ichthyosis -- alopecia -- eclabion -- ectropion -- mental retardation
     A very rare syndrome characterized mainly by scaly skin, hair loss, mental retardation and outwardly turned eyelids and lips....more »
    854. Ichthyosis and male hypogonadism
     A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads....more »
    855. Ichthyosis male hypogonadism
     A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads....more »
    856. Ichthyosis tapered fingers midline groove up
     A very rare syndrome characterized by scaly skin and facial and finger anomalies....more »
    857. Idaho syndrome
     A very rare syndrome characterized by a variety of abnormalities including clubfoot, mental retardation, finger abnormalities and a congenital heart defect....more »
    858. Idiopathic diffuse interstitial fibrosis
     A rare lung disease involving progressive inflammation and scarring (fibrosis) of deep lung tissue which can cause shortness of breath. In idiopathic forms of the condition, there is no apparent cause....more »
    859. Idiopathic pulmonary hemosiderosis
     A rare disorder involving bleeding into the lungs which can eventually cause damage to the lungs....more »
    860. Idiopathic pulmonary hypertension
     A rare condition where sclerosis of the pulmonary arteries cause cyanosis, polycythemia and heart failure....more »
    861. Iida-Kannari syndrome
     A rare congenital disorder characterized by joint contractures, scoliosis, cleft palate, abnormal ears and premature fusion of skull bones....more »
    862. Inclusion Body Myositis
     Progressive inflammatory muscle disease causing muscle weakness....more »
    863. Incontinentia Pigmenti
     A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency....more »
    864. Ingrown nails
     Inward growth of finger-nails or toe-nails....more »
    865. Inherited spherocytic anemia
     Inherited Spherocytic anemia is an inherited blood disorder characterized by red blood cells that are shaped like a sphere (spherocytes) rather than the normal doughnut shape. These abnormal cells are broken down prematurely resulting in a shortage of red...more »
    866. Intracranial aneurysms -- multiple congenital anomaly
     A very rare syndrome characterized mainly by brain aneurysms (dilated blood vessel) and various other abnormalities....more »
    867. Iodinated glycerol -- Teratogenic Agent
     There is evidence to indicate that exposure to Iodinated glycerol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of ...more »
    868. Iron deficiency anemia
     Iron-deficiency anemia is a blood condition characterized by low levels of iron in the body which leads to a reduction in the number of red blood cells....more »
    869. Ischiadic hypoplasia -- renal dysfunction -- immunodeficiency
     A rare disorder characterized by abnormal kidney function, immunodeficiency and an underdeveloped...more »
    870. Isoniazid -- Teratogenic Agent
     There is evidence to indicate that exposure to Isoniazid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure ...more »
    871. Isoniazid-induced Sideroblastic anemia
     Drug-induced sideroblastic anemia is a blood disorder caused by taking a drug called isoniazid. The body has sufficient iron levels but is unable to utilise it properly in red blood cells. The iron becomes abnormally deposited in red blood cells which mak...more »
    872. Ivemark Syndrome
     A rare progressive disorder characterized by absence or abnormal development of the spleen and malformations of the heart vessels....more »
    873. Ives-Houston syndrome
     A rare inherited syndrome characterized by retarded fetal growth, small head, malformed limbs and death before or soon after birth....more »
    874. Jacobs syndrome
     A very rare syndrome characterized mainly by heart inflammation (pericardium), joint disease and permanent finger flexion. The number of joints affected is variable....more »
    875. Jacobsen syndrome
     A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted....more »
    876. Jadassohn-Lewandowsky syndrome
     A rare, inherited disorder characterized by thickening of nails, white patches on mouth and anus(leukoplakia) and thickened hard skin on soles and palms....more »
    877. Jaffer-Beighton syndrome
     A rare inherited syndrome characterized by loose joints, slipped vertebrae and long, thin fingers....more »
    878. Jansen type metaphyseal chondrodysplasia
     A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities....more »
    879. Jeune syndrome
     A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation....more »
    880. Joint injury -- finger
     An injury to the finger joints. Severity of symptoms varies depending on the type and severity of the injury and often the primary symptom is pain. A finger joint injury can involve damage to the bones, ligaments or other tissues of the joint. The injury ...more »
    881. Joubert Syndrome
     A rare neurological disorder where there is a defect in the part of the brain that controls coordination and balance....more »
    882. Judge-Misch-Wright syndrome
     A very rare syndrome characterized mainly by thickened skin on palms and soles as well as around the mouth....more »
    883. Jugular lymphatic obstruction sequence
     A rare disorder caused by obstruction of the jugular lymphatic system due to problems during the fetal stage of development....more »
    884. Jussieu syndrome
     A rare syndrome characterized mainly by the association of a missing tongue with missing fingers or toes. Other malformations are also variably present....more »
    885. Juvenile pilocytic astrocytoma
     A type of brain tumor that occurs in children and young adults. The tumor is derived from a type of cell called an astrocyte and it can occur in various parts of the brain as well as the optic pathways and the spinal cord. Malignancy is rare. Symptoms may...more »
    886. KBG Syndrome
     A very rare genetic disorder involving short stature, mental retardation, abnormal development of various bones....more »
    887. Kabuki syndrome
     A rare genetic disorder characterized by distinctive facial features....more »
    888. Kaplan-Plauchu-Fitch syndrome
     A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities....more »
    889. Kawasaki disease
     A childhood illness that generally affects the skin, mouth and lymph nodes....more »
    890. Keratoderma palmoplantaris transgrediens et progrediens
     A rare syndrome characterized mainly by coarse hair and superficial horny growths on the palms and soles. Short fingers and thin nails have also been observed....more »
    891. Keratosis focal -- palmoplantar, gingival
     A rare syndrome characterized mainly by thickened skin on the soles and palms in areas that are under the most trauma e.g. weight-bearing part of sole. The gums also have thickened growths....more »
    892. Keratosis palmaris et plantaris -- clinodactyly
     A rare disorder characterized by the association of thickened skin on the palms and soles as well curvature of the fifth finger....more »
    893. Keratosis palmoplantar periodontopathy
     A very rare inherited condition characterized by dry scaly patches on the skin of the palms and soles, gum and teeth problems and frequent skin infections....more »
    894. Keratosis palmoplantaris -- periodontopathia -- onychogryposis
     A rare syndrome characterized by gum disease, nail and skin problems and various other anomalies....more »
    895. Keratosis palmoplantaris papulosa
     A rare condition involving thickening of the skin on the palms and soles...more »
    896. Kleeblattschaedel syndrome
     A very rare syndrome characterized mainly by a head the is somewhat cloverleaf shaped....more »
    897. Kleiner-Holmes syndrome
     A very rare syndrome characterized mainly by big toe abnormalities including partial or complete duplication of the big toe....more »
    898. Klinefelter syndrome
     A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of probl...more »
    899. Klinefelter syndrome variant
    900. Klinefelter syndrome, variants
     A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of probl...more »
    901. Kniest dysplasia
     A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities....more »
    902. Knuckle pads, leukonychia and sensorineural deafness
     A very rare syndrome characterized mainly by deafness, knuckle pads and white nails....more »
    903. Kosztolanyi syndrome
     A very rare syndrome characterized mainly by severely retarded development, long thin fingers, mental retardation and skull and facial abnormalities....more »
    904. Koussef nichols syndrome
     A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities....more »
    905. Kousseff-Nichols syndrome
     A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities....more »
    906. Krause-Kivlin syndrome
     A rare genetic disorder characterized by short limb dwarfism, mental retardation and Peters anomaly....more »
    907. L-hyoscyamine -- Teratogenic Agent
     There is evidence to indicate that exposure to L-hyoscyamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expos...more »
    908. LADD Syndrome
     A very rare genetic disorder characterized by ear, teeth and tear duct abnormalities....more »
    909. Lacrimoauriculodentodigital syndrome
     A rare genetic disorder characterized by ear, teeth and tear duct abnormalities....more »
    910. Lamotrigine -- Teratogenic Agent
     There is evidence to indicate that exposure to Lamotrigine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...more »
    911. Landy-Donnai syndrome
     A very rare disorder characterized by a missing fingers and hand bones, webbed fingers, duplicated big toe and hydrops....more »
    912. Larsen syndrome, dominant type
     A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual dish-shaped face. The dominant form tends to have less severe dwarfism and more severe flattening of the face and is less li...more »
    913. Larsen syndrome, recessive type
     A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual face....more »
    914. Larsen-like osseous dysplasia -- dwarfism
     A very rare syndrome characterized mainly by bone abnormalities, joint dislocations, unusual facial appearance and dwarfism....more »
    915. Le Marec-Bracq-Picaud syndrome
     A very rare syndrome characterized mainly by a large head, short arms and clubfoot....more »
    916. Learning disabilities
     Various developmental problems impairing learning or schooling....more »
    917. Lederle -- Teratogenic Agent
     There is evidence to indicate that exposure to Lederle (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the leve...more »
    918. Ledermycin -- Teratogenic Agent
     There is evidence to indicate that exposure to Ledermycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the l...more »
    919. Lenz Majewski hyperostotic dwarfism
     A rare genetic disorder characterized by dense, thick bones and symphalangism....more »
    920. Leprechaunism
     A very rare genetic disorder characterized by insulin resistance which leads to growth delay and endocrine system abnormalities....more »
    921. Leukonychia totalis -- trichilemmal cysts -- cilliary dystrophy
     A very rare syndrome characterized mainly by kidney stones, completely white nails and cysts that form in oil producing areas of skin....more »
    922. Levothyroxine -- Teratogenic Agent
     There is evidence to indicate that exposure to Levothyroxine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expos...more »
    923. Lewis (F.) syndrome
     A rare genetic disorder characterized by heart and upper limb defects....more »
    924. Librium -- Teratogenic Agent
     There is evidence to indicate that exposure to Librium (a sedative or hypnotic drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affect...more »
    925. Limb transversal defect -- cardiac anomaly
     A very rare syndrome characterized mainly by heart anomaly and leg and hand malformations involving missing bones....more »
    926. Limb-body wall complex
     A rare condition where disruption of the amniotic band system can result in head, heart, lung, diaphragm, kidney or gonad abnormalities ....more »
    927. Limb-mammary syndrome
     A rare syndrome characterized by abnormalities of the hand and/or foot as well as absent or underdeveloped mammary glands and nipples. The severity of the deformity is variable. Tooth, nail and sweat gland abnormalities may also be present....more »
    928. Limited cutaneous systemic sclerosis
     A rare disorder that primarily affects the skin and blood vessels. It is characterized by calcified skin deposits (C), Raynaud syndrome (R), esophageal dysfunction (E), scleroderma of the fingers and toes(S) and telengiectasia - dilated blood vessels (T)....more »
    929. Lindstrom syndrome
     A rare disorder characterized by mental retardation, facial anomalies, short stature and seizures....more »
    930. Liotrix -- Teratogenic Agent
     There is evidence to indicate that exposure to Liotrix during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure an...more »
    931. Lisinopril -- Teratogenic Agent
     There is evidence to indicate that exposure to Lisinopril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure...more »
    932. Lissencephaly syndrome type 1
     A very rare form of the brain formation disorder called lissencephaly where the brain surface is abnormally smooth rather than convoluted resulting in mental retardation. Physical malformations are also present....more »
    933. Lithium -- Teratogenic Agent
     There is evidence to indicate that exposure to Lithium during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure an...more »
    934. Loeys-Dietz syndrome
     A very rare syndrome characterized mainly by a bulge in the aorta (aneurysm), wide set eyes, cleft palate, divided uvula and twisted arteries....more »
    935. Long thumb, brachydactyly syndrome
     A rare disorder characterized primarily by a long thumb, short fingers and toes and heart conduction defects....more »
    936. Lopes-Marques de Faria syndrome
     A very rare syndrome characterized mainly by decreased hair and mental retardation....more »
    937. Lotrimin -- Teratogenic Agent
     There is evidence to indicate that exposure to Lotrimin (an antifungal medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected...more »
    938. Low birth weight -- dwarfism -- dysgammaglobulinemia
     A very rare syndrome characterized mainly by low birth weight, short stature and a immune system abnormality....more »
    939. Lufyllin -- Teratogenic Agent
     There is evidence to indicate that exposure to Lufyllin (a bronchodilator) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the ...more »
    940. Lujan-Fryns syndrome
     A rare genetic disorder characterized by mental retardation and marfanoid habitus (features of Marfan's syndrome)....more »
    941. Lupus
     Autoimmune disease with numerous effects on various organs and linings....more »
    942. Lupus nephritis
     Kidney damage caused by lupus....more »
    943. Lymphedema -- ptosis
     A very rare syndrome characterized mainly by lymphedema (lymphatic obstruction) in the legs and droopy eyelids....more »
    944. Lymphoid interstitial pneumonia
     A relatively rare form of lung disease characterized by the buildup of lymphocytes (a type of white blood cell) in the air spaces or alveoli of the lungs. The condition can affect children or adults and is frequently associated with conditions such as HIV...more »
    945. MacDermot-Winter syndrome
     A very rare syndrome characterized mainly by a small head, underdeveloped genitalia and a protrusion of the area between the eyes (glabella)....more »
    946. Macleod-Fraser syndrome
     An inherited connective tissue disorder characterized by long thin fingers and contractures involving the knees, elbows, fingers and sometimes other joints....more »
    947. Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations
     A very rare syndrome characterized mainly by a large head, short stature and central nervous system problems....more »
    948. Macrocytic Hyperchromic Anemia
     Macrocytic Hyperchromic anemia is a blood disorder characterized by abnormally large red blood cells which contain abnormally high amounts of haemoglobin. There is also a reduced number of red blood cells. This anomaly can be associated with such things a...more »
    949. Macrocytic anemia
     Macrocytic anemia is a blood disorder where the red blood cells are larger than normal but have low levels of haemoglobin which is needed to carry oxygen throughout the body. The condition usually results from a deficiency of vitamin B12 or folate, digest...more »
    950. Manouvrier syndrome
     A very rare syndrome characterized mainly by the failure of the lungs to develop fully, heart defects and thumb abnormalities....more »
    951. Marden-Walker Syndrome
     A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression....more »
    952. Marden-Walker-like syndrome
     A very rare syndrome characterized mainly by long, thin fingers, contractures from birth and narrow eye slits....more »
    953. Marfan syndrome
     A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue....more »
    954. Marfanoid -- mental retardation syndrome autosomal
     A very rare syndrome characterized mainly by psychomotor retardation, a flat face and some symptoms of Marfan syndrome (long arms and legs, tall stature, reduced skin fat and poor muscle tone)....more »
    955. Marfanoid hypermobility
     An inherited connective tissue disorder with certain characteristics of Marfan and Ehlers-Danlos syndromes. Ehlers-Danlos syndrome is characterized by hyperextensible skin and loose joints and Marfan syndrome is characterized by symptoms such as tall, sle...more »
    956. Marie-Bamberg syndrome
     A rare condition characterized by clubbing of fingers and toes, excessive sweating and development of fibrous tissue around the ends of bones. The condition is a form of hypertrophic osteoarthropathy that occurs secondary to other conditions such as cardi...more »
    957. Marinesco-Sjogren I
     A rare condition characterized by cerebellar ataxia, speaking difficulty, mental retardation, short stature and tooth, hair and nail abnormalities....more »
    958. Maroteaux-Fonfria syndrome
     A rare congenital disorder characterized by extra little fingers and extra big toes as well as the normal features associated with Apert syndrome....more »
    959. Marshall-Smith Syndrome
     A rare genetic disorder characterized by accelerated growth and maturation, shallow orbits and broad middle bones of fingers....more »
    960. Mastocytosis -- short stature -- hearing loss
     A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment....more »
    961. Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia
     A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment....more »
    962. Matsoukas-Liarikos-Giannika syndrome
     A very rare syndrome characterized mainly by mental retardation, short stature and eye and joint abnormalities....more »
    963. McGillivray syndrome
     A very rare syndrome characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia....more »
    964. McKusick-Kaufman syndrome
     A rare genetic disorder characterized by hydrometrocolpos (fluid buildup in vagina and uterus), extra fingers and congenital heart defects....more »
    965. Meckel Syndrome
     A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks....more »
    966. Meckel syndrome type 2
     A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes....more »
    967. Meckel syndrome type 3
     A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes. Type 3 differs from the other types in the location of the genetic defect and b...more »
    968. Meckel syndrome, type 5
     A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes. Type 5 is caused by a defect in the RPGRIP1L gene on chromosome 16q12.2....more »
    969. Meclizine -- Teratogenic Agent
     There is evidence to indicate that exposure to Meclizine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure ...more »
    970. Median cleft lip, corpus callosum, lipoma, and skin polyps
     A very rare syndrome characterized mainly by a cleft lip, lipoma, skin polyps and abnormal brain development....more »
    971. Median cleft, corpus callosum, lipoma, and cutaneous polyps
    972. Medrano-Roldan syndrome
     A very rare syndrome characterized mainly by mental retardation, reduced muscle tone and increased skin pigmentation....more »
    973. Megalencephaly -- cutis marmorata telangiectatica congenita
     A very rare syndrome characterized mainly by an enlarged brain, neurological abnormalities and a blood vessel abnormality that gives the skin a marbled appearance....more »
    974. Megalencephaly -- polymicrogyria -- post-axial polydactyly -- hydrocephalus
     A rare syndrome characterized mainly by brain abnormalities, extra digits and a excess fluid inside the skull....more »
    975. Megaloblastic Anemia 1
     A rare genetic blood disorder where a defect in the vitamin B12 receptor means that it can't be absorbed from food during digestion. As a result of the low vitamin B12 levels, the body produces increased numbers of abnormal enlarged red blood cells (megal...more »
    976. Megalocornea mental retardation syndrome
     A very rare genetic disorder characterized by reduced muscle tone from birth, mental retardation to varying degrees and eye abnormalities. The type and severity of symptoms is variable...more »
    977. Megalocytic-Normochromic anemia
     Megalocytic-Normochromic is a blood disorder characterized by normal amounts of haemoglobin within abnormally large red blood cells. However, the number of red blood cells is low....more »
    978. Meigel Disease
     A rare connective tissue disorder characterized by abnormal collagen which has abnormal alpha-2 chains....more »
    979. Melanoma
     Melanoma is the most dangerous type of skin cancer. It is the leading cause of death from skin disease. It involves cells called melanocytes, which produce a skin pigment called melanin. Melanin is responsible for skin and hair color....more »
    980. Melanoma -- astrocytoma syndrome
     A rare syndrome characterized by the association of a melanoma with a type of brain tumor called an astrocytoma. The exact symptoms may vary depending on the exact location of the brain tumor....more »
    981. Meleda Disease
     A very rare inherited skin disorder primarily involving dry thick skin patches that develop on the palms of hands and soles of feet. The type and severity of symptoms is variable....more »
    982. Mental Retardation -- Pterygia -- Shortness -- Distinctive Facial Appearance
     A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies....more »
    983. Mental mixed retardation -- deafness -- clubbed digits
     A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers....more »
    984. Mental mixed retardation deafnes clubbed digits
     A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers....more »
    985. Mental retardation -- arachnodactyly -- hypotonia -- telangiectasia
     A very rare syndrome characterized mainly by mental retardation, short fingers, reduced muscle tone and spider veins (telangiectasia)....more »
    986. Mental retardation -- blepharophimosis -- obesity -- web neck
     A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck....more »
    987. Mental retardation -- coloboma -- slimness
     A very rare syndrome characterized mainly by mental retardation, retinal coloboma and a slim build....more »
    988. Mental retardation -- contractural arachnodactyly
     A rare disorder characterized mainly by the association of mental retardation with long thin fingers which were permanently flexed....more »
    989. Mental retardation -- microcephaly -- phalangeal -- facial abnormalities
     A very rare syndrome characterized mainly by mental retardation, small head, facial and bone abnormalities in the fingers and toes....more »
    990. Mental retardation -- myopathy -- short stature -- endocrine defect
     A very rare syndrome characterized mainly by mental retardation, muscle disease, short stature and endocrine defects....more »
    991. Mental retardation -- short broad thumbs
     A very rare syndrome characterized mainly by mental retardation and short, broad thumbs....more »
    992. Mental retardation -- short stature -- absent phalanges
     A very rare, recessively inherited syndrome characterized mainly by mental retardation, short stature and missing finger bones....more »
    993. Mental retardation -- short stature -- cleft palate -- unusual facies
     A very rare syndrome characterized mainly by short stature, mental retardation, cleft palate and facial anomalies....more »
    994. Mental retardation -- short stature -- heart and skeletal anomalies
     A very rare syndrome characterized mainly by mental retardation, short stature and heart and skeletal anomalies....more »
    995. Mental retardation -- spasticity -- ectrodactyly
     A very rare syndrome characterized mainly by mental retardation, spasticity and a cleft hand. In the reported case, the parents came from the same bloodline....more »
    996. Mental retardation -- unusual facies -- talipes -- hand anomalies
     A very rare syndrome characterized mainly by mental retardation, unusual facial appearance, clubfoot and hand abnormalities....more »
    997. Mental retardation X-linked dysmorphism
     A very rare syndrome characterized mainly by mental retardation, partially dislocated knees and teeth and facial abnormalities....more »
    998. Mental retardation X-linked syndromic 7
     A very rare syndrome characterized mainly by mental retardation, obesity, hypogonadism and tapered fingers....more »
    999. Mental retardation athetosis microphthalmia
     A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder....more »
    1000. Mental retardation unusual facies ampola type
     A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities....more »
    1001. Mental retardation, Buenos Aires type
     A very rare syndrome characterized mainly by mental retardation, physical retardation, unusual facial appearance and heart and kidney defects....more »
    1002. Mental retardation, Mietens-Weber type
     A very rare genetic condition characterized by mental retardation, corneal opacity, nystagmus, elbow contractures and dwarfism....more »
    1003. Mental retardation, Wolff type
     A very rare syndrome characterized mainly by severe mental retardation and facial anomalies. The parents came from the same bloodline....more »
    1004. Mental retardation, X-linked -- gynecomastia -- obesity
     A rare disorder characterized by mental retardation, obesity, enlarged male breasts, speech problems and other anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers...more »
    1005. Mental retardation, X-linked, 45
     A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the zinc finger protein-81 gene on chromosome Xp22.1-p11....more »
    1006. Mental retardation, X-linked, Siderius type
     A rare inherited form of mental retardation involving a defect on chromosome Xp11.2....more »
    1007. Mental retardation, X-linked, Stevenson type
     A rare disorder characterized by mental retardation, reduced muscle tone and other anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptom...more »
    1008. Mental retardation, X-linked, Vitale type
     A rare disorder characterized by mental retardation and facial and skeletal anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms. The ...more »
    1009. Mental retardation, X-linked, Wittwer type
     A rare disorder characterized by severe mental retardation, retarded growth, seizures and vision and hearing problems. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers ma...more »
    1010. Mental retardation-polydactyly-uncombable hair
     A very rare syndrome characterized mainly by mental retardation, extra fingers and uncombable hair....more »
    1011. Meperidine -- Teratogenic Agent
     There is evidence to indicate that exposure to Meperidine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure...more »
    1012. Mephenytoin -- Teratogenic Agent
     There is evidence to indicate that exposure to Mephenytoin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...more »
    1013. Meprobamate -- Teratogenic Agent
     There is evidence to indicate that exposure to Meprobamate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...more »
    1014. Mesalamine -- Teratogenic Agent
     There is evidence to indicate that exposure to Mesalamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure...more »
    1015. Mesomelia radial hypoplasia bifid thumb unusual facies
     A rare syndrome characterized mainly by skeletal abnormalities, dwarfism and hair, nail, skin and teeth abnormalities....more »
    1016. Metaphyseal dysostosis mental retardation conductive deafness
     A rare, recessively inherited disorder characterized by mental retardation, deafness and skeletal abnormalities....more »
    1017. Metaphyseal dysplasia -- maxillary hypoplasia -- brachydactyly
     A very rare syndrome characterized mainly by short fingers, underdeveloped upper jaw and bone abnormalities involving the cone-shaped portion near the end of the bones where growth occurs....more »
    1018. Metatrophic dysplasia
     A very rare form of dwarfism involving short limbs and a long trunk. Less than 100 cases of the condition have been reported....more »
    1019. Methacycline -- Teratogenic Agent
     There is evidence to indicate that exposure to Methacycline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposu...more »
    1020. Methahemoglobinemia
     Excess methahemoglobin in the blood...more »
    1021. Methamphetamine -- Teratogenic Agent
     There is evidence to indicate that exposure to Methamphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exp...more »
    1022. Methimazole -- Teratogenic Agent
     There is evidence to indicate that exposure to Methimazole during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...more »
    1023. Miconazole -- Teratogenic Agent
     There is evidence to indicate that exposure to Miconazole during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure...more »
    1024. Micrencephaly corpus callosum agenesis
     A very rare disorder characterized by abnormal brain development which results in a very small brain. Patients may die during infancy and survivors suffer mental retardation and other physical abnormalities....more »
    1025. Microbrachycephaly -- ptosis -- cleft lip
     A very rare syndrome characterized mainly by a small, short head, droopy eyelids and a cleft lip....more »
    1026. Microcephalic osteodysplastic primordial dwarfism, type 2
     A very rare syndrome characterized mainly by growth problems before and after birth as well as various skeletal and facial anomalies....more »
    1027. Microcephalic primordial dwarfism, Toriello type
     A very rare syndrome characterized mainly by dwarfism, mental retardation and other anomalies....more »
    1028. Microcephaly -- glomerulonephritis -- Marfanoid habitus
     A very rare syndrome characterized mainly by a small head, kidney disorder and a and a tall, slight build....more »
    1029. Microcephaly -- mesobrachyphalangy -- tracheoesophageal fistula syndrome
     A very rare syndrome characterized by an abnormally small head, short fingers and an abnormal opening between the trachea and esophagus....more »
    1030. Microcephaly syndactyly brachymesophalangy
     A very rare syndrome characterized mainly by the association of a small head, syndactyly and short middle bones in digits....more »
    1031. Microcephaly, hiatal hernia and nephrotic syndrome
     A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease....more »
    1032. Microcephaly-Faciocardioskeletal syndrome
     A rare syndrome characterized mainly by a small head and heart, facial and skeletal abnormalities. The specific abnormalities can vary somewhat e.g. heart abnormalities may include pulmonary artery atresia, ventricular septal defect, atrial septal defect,...more »
    1033. Microcytic Anemia
     Microcytic anemia is a blood disorder characterized by small red blood cells (erythrocytes). The red blood cells are small due to a failure of haemoglobin synthesis or insufficient quantities of haemoglobin available. The blood disorder is usually caused ...more »
    1034. Microcytic Hyperchromic Anemia
     Microcytic Hyperchromic anemia is a blood disorder characterized by abnormally small red blood cells which contain abnormally high amounts of haemoglobin. There is also a reduced number of red blood cells. This anomaly can be associated with such things a...more »
    1035. Microcytic hypochromic anemia
     Microcytic anemia is a blood disorder characterized by small red blood cells (erythrocytes) which have insufficient haemoglobin and hence have a reduced ability to carry oxygen through the body. The red blood cells are small due to a failure of haemoglobi...more »
    1036. Microcytic-Normochromic anemia
     Microcytic-Normochromic anemia is a blood disorder characterized by normal amounts of haemoglobin within small red blood cells. However the number of red blood cells is low....more »
    1037. Microdeletion 3q29
     A rare chromosomal disorder where a small portion of chromosome 3 is missing. The main features of the syndrome are mental retardation and slightly unusual facial appearance....more »
    1038. Micrognathia with Peromelia
     A rare syndrome characterized mainly by the association of a missing tongue with missing fingers or toes. Peromelia is a medical term for the congenital defect involving missing or malformed hands and/or feet. Other malformations are also variably present...more »
    1039. Micromelic dwarfism, Fryns type
     A very rare syndrome characterized mainly by short-limbed dwarfism....more »
    1040. Microphthalmia -- camptodactyly -- mental retardation
     A very rare disorder characterized by the association of small eyes, mental retardation and permanently flexed fingers....more »
    1041. Microphthalmia syndromic, type 6
     A rare inherited syndrome characterized mainly by small eyes, malformed ears, small jaw and finger and genital abnormalities. The symptoms are variable to some degree....more »
    1042. Mifepristone -- Teratogenic Agent
     There is evidence to indicate that exposure to Mifepristone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposu...more »
    1043. Mineral deficiency
     A deficiency of any minerals in the body...more »
    1044. Minocycline -- Teratogenic Agent
     There is evidence to indicate that exposure to Minocycline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...more »
    1045. Minoxidil (topical) -- Teratogenic Agent
     There is evidence to indicate that exposure to Minoxidil (topical) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of...more »
    1046. Mirror hand syndrome
     A rare syndrome characterized by hand and arm defects which are the same as foot and lower leg defects (e.g. missing radius and missing tibia) as well as nasal defects....more »
    1047. Misoprostol -- Teratogenic Agent
     There is evidence to indicate that exposure to Misoprostol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...more »
    1048. Mitral atresia
     A rare defect where the mitral valve is closed off. The mitral valve connects the two chambers on the left side of the heart (atrium and ventricle). The blood is therefore unable to flow between the two heart chambers....more »
    1049. Mobius syndrome
     A rare genetic condition characterized by defective cranial nerves (6th and 7th), deafness, facial nerve paralysis and other abnormalities....more »
    1050. Moebius Syndrome
     Moebius syndrome is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis....more »
    1051. Moebius sequence
     A rare genetic disorder characterized by facial paralysis due to problems with 6th and 7th nerve development....more »
    1052. Moloney syndrome
     A very rare syndrome characterized mainly by wasting of the choroids in the eye and sparse, fine hair. The choroid is a layer of blood vessels that lies between the retina and the sclera and delivers blood to the back of the eye....more »
    1053. Mononen-Karnes-Senac syndrome
     A very rare syndrome characterized mainly by short fingers and other skeletal abnormalities involving the limbs. Males are affected to a greater degree than females....more »
    1054. Montefiore syndrome
     A very rare syndrome characterized mainly by skull, facial, heart and digital abnormalities....more »
    1055. Morava-Mehes syndrome
     A rare syndrome characterized mainly by an underdeveloped bones in the forearm, calf and fourth and fifth fingers, short stature and unusual facial appearance....more »
    1056. Morse-Rawnsley-Sargent syndrome
     A very rare syndrome characterized mainly by abnormal brain development and reduced fetal movement....more »
    1057. Muller-Barth-Menger syndrome
     A rare disorder characterized by brain malformations, seizures, excessive hairiness and overlapping fingers....more »
    1058. Mullerian derivatives -- lymphangiectasia -- polydactyly
     A rare syndrome characterized by extra fingers, Mullerian duct remnants and lymphangiectasia....more »
    1059. Multicentric osteolysis -- nodulosis -- arthropathy
     A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis....more »
    1060. Multiple pterygium syndrome
     A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies....more »
    1061. Multiple synostoses syndrome 2
     A rare disorder characterized by multiple fusions involving various bones in the body such as the fingers, toes and elbow....more »
    1062. Muscular dystrophy, Duchenne and Becker type
     An inherited l disorder characterized by progressive muscle weakness. The disorder is caused by a genetic anomaly and results in insufficient quantities of or ineffective dystrophin which is needed for normal muscle functioning. The disorder is expressed ...more »
    1063. Mycelex -- Teratogenic Agent
     There is evidence to indicate that exposure to Mycelex (an antifungal medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected ...more »
    1064. Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
     A condition where abnormal function of the bone marrow results in insufficient production of normal blood cells. The disorder is caused by the deletion of genetic material from chromosome 5q....more »
    1065. Myoclonic epilepsy benign, adult, familial
     A rare familial disorder characterized by muscle jerking and seizures in adults. The disorder is not progressive and is fairly harmless with only minor fine motor control problems....more »
    1066. Myopathy, Congenital, Compton-North
     A familial form of congenital muscle disease resulting from a genetic anomaly....more »
    1067. Möbius Syndrome
     Möbius syndrome is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis....more »
    1068. N syndrome
     A rare genetic disorder characterized by mental and physical retardation, eye abnormalities, retarded growth, hearing impairment and a high risk of developing cancers, particularly leukemia. It is an extremely rare condition originally described in two br...more »
    1069. Nablus mask-like facial syndrome
     A rare disorder characterized by an unusual mask-like facial appearance....more »
    1070. Naguib syndrome
     A rare syndrome characterized mainly by wide-set eyes, hypospadias and extra fingers....more »
    1071. Nail conditions
     Any condition that affects the nail...more »
    1072. Nail dysplasia, isolated congenital
     A rare genetic disorder characterized by abnormal nail development which is usually evident at birth or soon after....more »
    1073. Nail-Patella Syndrome
     A rare inherited disorder characterized by small or absent kneecap and ridged and/or absent nails as well as other abnormalities...more »
    1074. Nakajo syndrome
     A very rare syndrome characterized mainly by skin problems, various head anomalies and loss of fat in parts of the body....more »
    1075. Narrow oral fissure -- short stature -- cone-shaped epiphyses
     A very rare syndrome characterized mainly by narrow mouth opening, short stature and abnormal bone development....more »
    1076. Nasodigitoacoustic syndrome
     A rare genetic syndrome characterized by abnormalities of the nose, fingers and toes as well as deafness....more »
    1077. Navajo poikiloderma
     A rare genetic blood disorder found in Navajo populations and characterized by a progressive skin disorder and neutropenia (lack of neutrophils which are needed to fight bacterial infections)....more »
    1078. Neonatal Respiratory Distress Syndrome
     Lung disease mostly in premature newborns; see also adult RDS....more »
    1079. Neu-Laxova Syndrome
     A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage....more »
    1080. Neurofaciodigitorenal syndrome
     A very rare syndrome characterized by brain problems, mental retardations, kidney and limb defects as well as a range of other physical abnormalities....more »
    1081. Neuropathy hereditary with liability to pressure palsies
    1082. Nevo syndrome
     A genetic disorder characterized by excessive fetal growth, loose joints, kyphosis and impaired speech and motor development....more »
    1083. Nevus comedonicus syndrome
     A rare condition characterized by the development of large comedones which can occur in groups or linear arrangements. The skin lesions tend to occur mainly on the face, neck, arms and trunk. If it is associated with other congenital malformations, it is ...more »
    1084. Nguyen syndrome
     A rare disorder characterized by low blood cholesterol, mental retardation and various congenital anomalies....more »
    1085. Nicolaides-Baraitser syndrome
     A very rare syndrome characterized mainly by short stature, reduced hair, short fingers, epilepsy and abnormal bone development....more »
    1086. Nicoumalone -- Teratogenic Agent
     There is evidence to indicate that exposure to Nicoumalone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...more »
    1087. Nievergelt syndrome
     A rare inherited bone disease which causes abnormalities in the lower leg and lower arm bones as well as dwarfism and digit anomalies....more »
    1088. Night blindness -- skeletal anomalies -- unusual facies
     A very rare syndrome characterized mainly by night blindness, a distinctive face and skeletal abnormalities....more »
    1089. Nodulosis-arthropathy-osteolysis syndrome
     A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis....more »
    1090. Non-hereditary spherocytic anemia
     Non-inherited spherocytic anemia is an acquired blood disorder characterized by red blood cells that are shaped like a sphere (spherocytes) rather than the normal doughnut shape. These abnormal cells are broken down prematurely resulting in a shortage of ...more »
    1091. Normochromic anemia
     Normochromic anemia is a blood disorder characterized by normal amounts of haemoglobin within red blood cells but low numbers of red blood cells....more »
    1092. Normocytic anemia
     Normocytic anemia is a blood disorder characterized by red blood cells which are of a normal size but present in insufficient quantities. It is often associated with chronic diseases, blood loss, bone marrow problems and kidney disease. It can also be the...more »
    1093. Normocytic-Normochromic anemia
     Megalocytic-Normochromic is a blood disorder characterized by normal amounts of haemoglobin within normal-sized red blood cells. However, the number of red blood cells is low. Conditions such as haemolytic anemia, liver disease and aplastic anemia may be ...more »
    1094. Nutritional Sideroblastic anemia
     Nutritional sideroblastic anemia is a blood disorder caused insufficient quantities of pyridoxine or copper. The body has sufficient iron levels but is unable to utilise it properly in red blood cells due to the lack of pyridoxine or copper. The iron beco...more »
    1095. Nutritional anemia
     Nutritional anemia refers to a reduced red blood cell count due to a poor diet which is deficient in iron, folat and/or Vitamin B12....more »
    1096. Nytol -- Teratogenic Agent
     There is evidence to indicate that exposure to Nytol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and ...more »
    1097. OFD syndrome type 8
     A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities....more »
    1098. OFD syndrome type Figuera
     A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps, finger abnormalities and absence of all or part of the fibula....more »
    1099. OFD syndrome type IX
     A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger and retinal abnormalities....more »
    1100. OLEDAID
     A rare syndrome characterized mainly by a weak immuned system, bone problems, lymphoedema and hair, teeth and nail abnormalities. Death usually occurs during the first few years of life due to overwhelming infections....more »
    1101. OSMED, Homozygous
     A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies....more »
    1102. Oculo cerebro acral syndrome
     A very rare syndrome characterized mainly by eye, brain, ear and limb abnormalities....more »
    1103. Oculo skeletal renal syndrome
     A very rare syndrome characterized mainly by eye, skeletal and kidney problems....more »
    1104. Oculo tricho dysplasia
     A very rare syndrome characterized mainly by eye, tooth and hair abnormalities...more »
    1105. Oculo-dento-digital dysplasia dominant
     A rare disorder characterized by webbing of some fingers, small corneas, enamel abnormalities and slow-growing, dry hair....more »
    1106. Oculo-osteo-cutaneous syndrome
     A rare syndrome characterized mainly by eye, skeletal and skin abnormalities....more »
    1107. Oculocerebral hypopigmentation syndrome, type Preus
     A very rare syndrome characterized mainly by eye, brain and pigmentation abnormalities....more »
    1108. Oculodentodigital syndrome
     A rare genetic disorder characterized by small eyes, underdeveloped tooth enamel and permanent flexion of one or more finger joints....more »
    1109. Oculodentoosseous dysplasia recessive
     A very rare recessively inherited syndrome characterized mainly by eye, tooth and finger abnormalities. The eye abnormalities tend to be more severe than in the dominant form of the disorder....more »
    1110. Oculopalatoskeletal syndrome
     A very rare syndrome characterized mainly by eye, mouth palate and skeletal abnormalities....more »
    1111. Odonto-tricho-ungual-digito-palmarn syndrome
     A rare syndrome characterized mainly by the presence of teeth at birth, hair loss and hand and foot malformations....more »
    1112. Odontomicronychial dysplasia
     A very rare syndrome characterized mainly by tooth and nail abnormalities....more »
    1113. Odontoonychodermal dysplasia
     A very rare syndrome characterized mainly by tooth, nail and skin abnormalities....more »
    1114. Oligodontia, keratitis, skin ulceration and arthroosteolysis
     A rare condition characterized by a variety of abnormalities including missing teeth, recurring skin ulceration, eye problems and nail symptoms....more »
    1115. Oliver syndrome
     An extremely rare condition characterized by extra fingers and/or toes and mental retardation....more »
    1116. Onchyomycosis
     A fungal infection of the nail. The toenails tend to be affected more than the fingernails....more »
    1117. Onycho-tricho-dysplasia -- neutropenia
     A very rare syndrome characterized mainly by hair and nail abnormalities, neutropenia and psychomotor retardation....more »
    1118. Onychodystrophy -- deafness
     A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R)....more »
    1119. Onychodystrophy and anonychia with type B brachydactyly and ectrodactyly
     A rare, dominantly inherited disorder characterized abnormal or absent nails, missing fingers, permanently flexed fingers and a broad, finger-like thumb....more »
    1120. Onychotrichodysplasia and neutropenia
     A very rare syndrome characterized mainly by nail, hair and blood abnormalities....more »
    1121. Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome
     A very rare syndrome characterized mainly by hair and nail abnormalities, neutropenia and mental retardation....more »
    1122. Opitz-Reynolds-Fitzgerald syndrome
     A very rare syndrome characterized mainly by extra little fingers, deafness and bone abnormalities of the face....more »
    1123. Opsismodysplasia
     A rare disorder where abnormal bone development results in skeletal abnormalities such as short stature, short limbs and facial abnormalities....more »
    1124. Opthalmo acromelic syndrome
     A very rare syndrome characterized mainly by missing eyes and limb anomalies....more »
    1125. Oral facial digital syndrome
     A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities....more »
    1126. Oral facial digital syndrome, type 4
     A rare inherited disorder characterized by facial, digital and oral abnormalities. Type IV is differentiated from the other types by the presence of severe shinbone deformity....more »
    1127. Oral facial digital syndrome, type IV
     A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps, finger abnormalities, brain defects and short stature....more »
    1128. Oro acral syndrome
     A very rare syndrome characterized mainly by mouth and limb abnormalities....more »
    1129. Orofaciodigital syndrome Thurston type
     A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities....more »
    1130. Orofaciodigital syndrome type I
    1131. Orofaciodigital syndrome type1
     A rare genetic disorder characterized by variable malformations of the face, digits and inside the mouth. Type 1 is distinguished from the other types of this condition by the presence of polycystic kidneys and a X-linked dominant inheritance....more »
    1132. Orofaciodigital syndrome, Shashi type
     A rare genetic disorder involving oral, facial and digital abnormalities as well as the absence of the pituitary gland....more »
    1133. Orofaciodigital syndrome, type 3
     A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger, teeth and eye abnormalities....more »
    1134. Oromandibular and Limb Hypogenesis Syndrome, Type II
     Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type II involves an underdeveloped or missing tongue as well as missing digits or limb deficiencies....more »
    1135. Oromandibular and Limb Hypogenesis Syndrome, Type V
     Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type V involves an underdeveloped tongue as well as various other anomalies - syndromes such as Hanhart syndrome, Pierr...more »
    1136. Oromandibular-limb hypogenesis spectrum
     A rare disorder characterized by a spectrum of disorders....more »
    1137. Oslam syndrome
     A very rare syndrome characterized mainly by bone cancer, limb abnormalities and enlarged red blood cells....more »
    1138. Osteoarthritis
     Osteoarthritis is a chronic condition characterised by mechanical disrturbances due to degradation of joints. It is the most common form of arthritis, and the leading cause of chronic disability....more »
    1139. Osteoarthropathy of fingers, familial
     A rare disorder where a disrupted blood supply to the finger bones which results in bone pain and destruction....more »
    1140. Osteodysplasia, familial, Anderson type
     A very rare syndrome characterized mainly by skeletal abnormalities involving the spine, legs, pelvis and collar bone....more »
    1141. Osteogenesis imperfecta, type VIII
     A form of connective tissue disorder involving fragile bones. Type VIII is distinguished from the other types of osteogenesis imperfecta by white sclerae, severely reduced bone mineralization and abnormal metaphyses....more »
    1142. Osteoglophonic dwarfism
     A form of dwarfism characterized by premature fusion of skull bones, short limbs and digits, facial abnormalities and bone development anomalies....more »
    1143. Osteoporosis -- macrocephaly -- blindness -- joint hyperlaxity
     A very rare syndrome characterized mainly by mental retardation, osteoporosis, blindness and a large head....more »
    1144. Osteoporosis -- macrocephaly -- mental retardation -- blindness
     A very rare syndrome characterized mainly by mental retardation, osteoporosis, blindness and a large head....more »
    1145. Osteoporosis, severe -- shortened long bones -- white sclerae
     A rare, lethal syndrome characterized by severe osteoporosis, short limbs and white sclerae....more »
    1146. Oto-Palatal-digital syndrome
     A very rare syndrome characterized a variety of abnormalities including skeletal anomalies, distinctive face and cleft palate. There are two types of the disorder (type 1 and 2) with type 2 being more severe....more »
    1147. Oto-Palato-Digital Syndrome
    1148. Oto-palato-digital syndrome, type 2
     A rare genetic disorder characterized by head, face, mouth and bone abnormalities....more »
    1149. Oto-spondylo-megaepiphyseal dysplasia, autosomal recessive
     A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies....more »
    1150. Oto-spondylo-megaepiphyseal dysplasia, homozygous
     A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies....more »
    1151. Otopalatodigital Syndrome Type I and II
     A rare genetic disorder characterized by ear, palate, skull, face, finger, toe and other skeletal abnormalities....more »
    1152. Otospondylomegaepiphyseal dysplasia
     A rare genetic disorder where abnormal bone growth causes hearing loss, skeletal abnormalities and characteristic facial features....more »
    1153. Oxytetracycline -- Teratogenic Agent
     There is evidence to indicate that exposure to Oxytetracycline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exp...more »
    1154. PEHO-like syndrome
     A rare birth disorder characterized by brain anomalies due to prenatal ischemia. Clinically it is the same as true PEHO syndrome but differs in the type of brain abnormality involved. True PEHO syndrome is inherited and tends to involve an underdeveloped ...more »
    1155. POEMS
     A very rare disorder that has widespread effects on the body: P -- polyneuropathy, O -- organopathy, E -- endocrinopathy, M -- monoclonal gammopathy and S -- skin changes....more »
    1156. POEMS syndrome
     A very rare disorder that has widespread effects on the body: P - polyneuropathy, O - organopathy, E - endocrinopathy, M - monoclonal gammopathy, S - skin changes....more »
    1157. Pachyonychia congenita recessive
     A rare, recessively inherited disorder where the nails is white and the skin is blistered....more »
    1158. Pachyonychia congenital syndrome
     A rare genetic ectodermal disorder characterized by thick nails, thick skin on palms and soles and white patches on tongue and inside of cheek....more »
    1159. Pachyonychia congenital syndrome type I
     A rare genetic ectodermal disorder characterized by thick nails, thick skin on palms and soles and white patches on tongue and inside of cheek....more »
    1160. Pachyonychia congenital syndrome type II
     A rare genetic ectodermal disorder characterized by thick nails....more »
    1161. Palant cleft palate syndrome
     A rare genetic disorder characterized by a cleft palate, unusual facial features, mental retardation and limb abnormalities....more »
    1162. Pallister Killian Mosaic Syndrome
     Pallister Killian Mosaic Syndrome is a very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities....more »
    1163. Pallister Mosaic Syndrome Tetrasomy 12p
     A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities....more »
    1164. Pallister-Hall Syndrome
     A rare genetic disorder characterized by hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and polydactyly....more »
    1165. Pallister-Killian Syndrome
     A rare genetic disorder due to tetrasomy of the 12th chromosome...more »
    1166. Pallister-Ulnar mammary syndrome
     A rare genetic condition characterized by extra or missing digits, breast and dental abnormalities....more »
    1167. Palmoplantar keratoderma punctate, hereditary
     An inherited disorder characterized by numerous tiny bumps of thickened skin on the palms and soles. The skin develops numerous hyperkeratototic papules which are usually 1-2 mm in size....more »
    1168. Paraplegia -- brachydactyly -- cone-shaped epiphysis
     A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly....more »
    1169. Paronychia
     Skin infection of a nail...more »
    1170. Partial 7p Monosomy
     A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion....more »
    1171. Partial Trisomy 18 Syndrome
     A rare genetic chromosomal syndrome where the child has an extra third copy of only part of chromosome 18 in the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of the whole of chromosome 18 in all...more »
    1172. Patel-Bixler syndrome
     A rare disorder characterized by the association of abnormal thickening of skin on palms and soles, nail abnormalities and alopecia....more »
    1173. Pectus excavatum macrocephaly dysplastic nails
     A rare syndrome characterized mainly by a sunken chest, large head and abnormal nails....more »
    1174. Pelvic-shoulder dysplasia
     A very rare syndrome characterized mainly by pelvic and shoulder blade abnormalities....more »
    1175. Pena Shokeir syndrome, type 1
     A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems....more »
    1176. Penicillamine, D -- Teratogenic Agent
     There is evidence to indicate that exposure to Penicillamine, D during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of ex...more »
    1177. Penicillin V -- Teratogenic Agent
     There is evidence to indicate that exposure to Penicillin V during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposu...more »
    1178. Penoscrotal transposition
     A very rare malformation where the penis and scrotum completely or partially swap positions. Other abnormalities are also usually associated....more »
    1179. Pentazocine -- Teratogenic Agent
     There is evidence to indicate that exposure to Pentazocine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...more »
    1180. Peripheral neuropathy
     Peripheral neuropathy is the term for damage to nerves of the peripheral nervous system, which may be caused either by diseases of the nerve or from the side-effects of systemic illness....more »
    1181. Pernicious anemia
     Pernicious anemia is a blood disorder where the body is unable to use it properly use Vitamin B12 to make red blood cells....more »
    1182. Peutz-Jeghers Syndrome
     A rare genetic disorder characterized by the development of numerous benign nodules on the inside lining of the intestinal wall as well as excess skin pigmentation usually around the lips and inner lining of the mouth....more »
    1183. Pfeiffer syndrome
     A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity....more »
    1184. Pfeiffer-Hirschfelder-Rott syndrome
     A very rare syndrome characterized by facial and kidney anomalies and a type of dwarfism where the farthest parts of the limbs suffer the greatest degree of shortness....more »
    1185. Phenindione -- Teratogenic Agent
     There is evidence to indicate that exposure to Phenindione during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...more »
    1186. Phenobarbital -- Teratogenic Agent
     There is evidence to indicate that exposure to Phenobarbital during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expos...more »
    1187. Phenprocoumon -- Teratogenic Agent
     There is evidence to indicate that exposure to Phenprocoumon during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expos...more »
    1188. Phenylpropanolamine -- Teratogenic Agent
     There is evidence to indicate that exposure to Phenylpropanolamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of...more »
    1189. Phenytoin -- Teratogenic Agent
     There is evidence to indicate that exposure to Phenytoin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure ...more »
    1190. Phocomelia -- contractures -- absent thumb
     A very rare syndrome characterized mainly by absent thumbs, contractures and missing arm and leg bones....more »
    1191. Phocomelia ectrodactyly deafness sinus arrhythmia
     A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm....more »
    1192. Phocomelia ectrodactyly ear malformation deafness sinus arrhythmia
     A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm....more »
    1193. Piepkorn karp hickoc syndrome
     A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers....more »
    1194. Pili torti -- onychodysplasia
     A very rare syndrome characterized mainly by abnormal nails and fragile twisted hair shafts. The condition has been reported in only one family....more »
    1195. Pilo dento ungular dysplasia -- microcephaly
     A very rare syndrome characterized mainly by hair, tooth and nail abnormalities as well as a small head....more »
    1196. Piroxicam -- Teratogenic Agent
     There is evidence to indicate that exposure to Piroxicam during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure ...more »
    1197. Pitt-Hopkins syndrome
     A very rare syndrome characterized mainly by mental retardation with periods of overbreathing and apnea....more »
    1198. Platyspondylic lethal skeletal dysplasia, Torrance type
     A very rare inherited condition involving severe bone growth problems and often resulting in death before or soon after birth....more »
    1199. Pneumonia
     Infection of the lung by bacteria, viruses or fungus....more »
    1200. Poikilocytic anemia
     Poikilocytic anemia refers a blood disorder characterized by abnormally shaped red blood cells. The abnormal red blood cells may be destroyed prematurely resulting in anemia. The severity of the anemia and hence the severity of symptoms is variable....more »
    1201. Pointer syndrome
     A rare syndrome characterized mainly by skeletal abnormalities, permanently flexed fingers, facial anomalies and feeding problems....more »
    1202. Poland Syndrome
     A rare genetic disorder characterized by hand syndactyly and abnormality of one chest muscle....more »
    1203. Polydactyly alopecia seborrheic dermatitis
     A very rare disorder characterized by the association of extra digits, alopecia and seborrheic dermatitis....more »
    1204. Polydactyly cleft lip palate psychomotor retardation
     A very rare syndrome described in a small inbred group of families and characterized by bifid toes, extra big fingers, cleft lip or palate and psychomotor retardation. There were various other symptoms that were variably present....more »
    1205. Polydactyly postaxial dental and vertebral
     A very rare syndrome characterized mainly by extra fingers and dental and vertebral abnormalities....more »
    1206. Polydactyly visceral anomalies cleft lip palate
     A rare syndrome characterized mainly by the association of extra digits, cleft lip and/or palate and visceral anomalies. Various other abnormalities may also be present....more »
    1207. Polydactyly, postaxial -- dental and vertebral anomalies
     A very rare syndrome characterized mainly by extra fingers and dental and vertebral abnormalities....more »
    1208. Polyneuropathy -- mental retardation -- acromicria -- premature menopause
     A very rare syndrome characterized mainly by premature menopause, sensory impairment, mental retardation and small, delicate facial bones....more »
    1209. Polysyndactyly -- trigonocephaly -- agenesis of corpus callosum
     A very rare syndrome characterized mainly by webbed fingers, extra fingers, unusual skull shape and abnormal brain development....more »
    1210. Polysyndactyly orofacial anomalies
     A very rare syndrome characterized by the association of webbed digits and oral and facial anomalies. Various other abnormalities may also be present....more »
    1211. Polysyndactyly overgrowth syndrome
     A very rare syndrome reported in one infant and characterized by the association of multiple webbed digits with an overly large body size....more »
    1212. Polysyndactyly type Haas
     A malformation where all the fingers are webbed and there is an extra digit. The webbing did not involve any bone fusion. The feet may have variable degrees of webbing and an extra toe may be present....more »
    1213. Pontocerebellar hypoplasia with infantile spinal muscular atrophy
     A rare, recessively inherited disorder characterized by an abnormally small brain and brainstem which manifests as a small head and mental retardation. The disorder is lethal with death usually occurring within the first year. The brain progressively dege...more »
    1214. Popliteal pterygium syndrome, lethal type
     A rare lethal condition characterized by webbing of skin as well as various other physical and mental abnormalities....more »
    1215. Potter syndrome
     A term that describes the physical appearance that occurs when kidney disease results in a reduced volume of amniotic fluid....more »
    1216. Primary hypothyroidism
     Primary hypothyroidism is a condition in which a defect in the thyroid gland leads to reduced production of thyroid hormone....more »
    1217. Primary pulmonary hypertension -- Dexfenfluramine-associated
     Dexfenfluramine-associated primary pulmonary hypertension refers to high blood pressure in the blood vessels that carry blood to the lungs as a result of using a diet drug called Dexfenfluramine. Blood pressure in other parts of the body is normal or some...more »
    1218. Primary pulmonary hypertension -- Fenfluramine-associated
     Fenfluramine-associated primary pulmonary hypertension refers to high blood pressure in the blood vessels that carry blood to the lungs as a result of using a diet drug called Fenfluramine. Blood pressure in other parts of the body is normal or sometimes ...more »
    1219. Primidone -- Teratogenic Agent
     There is evidence to indicate that exposure to Primidone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure ...more »
    1220. Progeroid syndrome, neonatal
     A rare congenital condition characterized by poor growth, aged facial appearance, and mental retardation. Death occurs usually by 6 years of age....more »
    1221. Promethazine -- Teratogenic Agent
     There is evidence to indicate that exposure to Promethazine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposu...more »
    1222. Protein deficiency
    1223. Proteus Syndrome
     A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body....more »
    1224. Proud-Levine-Carpenter syndrome
     A very rare syndrome characterized mainly by abnormal brain development, a small head and genital abnormalities....more »
    1225. Proximal subungual onychomycosis
     A fungal infection of the nail which tends to start at the nail fold and affects new nail growth. The infection starts on the top of the nail and then spreads deeper into the nail. This form of onychomycosis tends to occur primarily in AIDS patients....more »
    1226. Pseudoadrenoleukodystrophy
     A rare disorder where an enzyme deficiency (Acyl-CoA Oxidase) results in symptoms such as seizures, apnea, delayed psychomotor retardation and neurological deterioration....more »
    1227. Pseudoaminopterin syndrome
     A very rare condtion characterized by mental and physical retardation, skull abnormalities and skeletal defects. The symptoms observed are similar to those caused by aminopterin which was once used to induce abortions but in the pseudo form there is no ev...more »
    1228. Pseudodiastrophic dysplasia
     A rare genetic disorder characterized by short stature, contractures and joint dislocations....more »
    1229. Pseudohypoaldosteronism type II
     A rare condition characterized by electrolyte disorders caused by the kidney's inability to respond to aldosterone. Type II is differentiated from Type I in that sodium wasting doesn't occur....more »
    1230. Pseudopapilledema -- blepharophimosis -- hand anomalies
     A very rare syndrome characterized mainly by malformations involving the hands, feet ears and face as well as deafness....more »
    1231. Psoriasis
     Psoriasis is an inflammatory skin condition where the defective immune system causes skin cells to grow rapidly. It affects a significant number of people. Arthritis, which can be severe, is associated with the psoriasis in up to a third of cases. Not all...more »
    1232. Psoriatic Arthritis, susceptibility to
     An inflammatory condition where the defective immune system causes joint inflammation as well as skin cells to grow rapidly causing psoriasis. Not all patients who are susceptible to the condition will develop it. There are various environmental factors w...more »
    1233. Psoriatic arthritis, juvenile form
     A type of arthritis associated with psoriasis in children. Psoriasis and arthritis are both inflammatory conditions with one affecting the skin and the other affecting the joints. The arthritis tends to precede the psoriasis....more »
    1234. Pterygia -- Mental retardation -- Distinctive Craniofacial Features
     A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies....more »
    1235. Pterygium, Popliteal, lethal type
     A rare lethal condition characterized by webbing of skin as well as various other physical and mental abnormalities....more »
    1236. Ptosis strabismus diastasis
     A rare genetic disorder characterized by drooping eyelids, strabismus and abdominal muscle defects....more »
    1237. Pulmonary alveolar proteinosis, congenital
     A rare lung disease where protein and fat molecules accumulate in the distant parts of the lungs and affect breathing....more »
    1238. Pulmonary arterio-veinous aneurysm
     A very rare disorder where there is an abnormal opening between a pulmonary artery and vein which can affect blood oxygenation....more »
    1239. Pulmonary arteriovenous fistula
     A rare genetic defect where one or more the arteries and veins in the lung are connected via an abnormal opening or fistula which affects the oxygenation level of body tissues....more »
    1240. Pulmonary arteriovenous malformation
     A rare malformation where there is an abnormal opening between a lung artery and a lung vein which causes some blood to pass through the lungs without being oxygenated....more »
    1241. Pulmonary fibrosis /granuloma
     A lung disease characterized by stiffening and inflammation of lung tissue....more »
    1242. Pulmonary hemangiomatosis
     A rare condition characterized by the proliferation of small blood vessels or capillaries in various parts of the lungs - pleura, bronchial and venous walls and alveolar septa....more »
    1243. Pulmonary hypertension
     Pulmonary hypertension refers to high blood pressure in the blood vessels that carry blood to the lungs. Blood pressure in other parts of the body is normal or sometimes even low. The condition may be caused by such things as lung conditions (e.g. emphyse...more »
    1244. Pulmonary hypoxic hypertension
     Pulmonary hypoxic hypertension is characterized by high blood pressure and low oxygen levels that result from constriction of the blood vessels leading to the lungs....more »
    1245. Pulmonary surfactant protein B, deficiency of
     A rare lung disease where protein and fat molecules accumulate in the distant parts of the lungs and affect breathing. The disease is called by a deficiency of a the lung surfactant protein B....more »
    1246. Pulmonary thromboembolic hypertension
     Pulmonary thromboembolic hypertension refers to high blood pressure in the blood vessels that carry blood to the lungs due to a blood clot in one of these blood vessels. Blood pressure in other parts of the body is normal or sometimes even low....more »
    1247. Pycnodysostosis
     A rare inherited biochemical disorder involving an enzyme (cathepsin k) deficiency which impairs the processes needed to maintain healthy bones....more »
    1248. Pyridoxine deficiency-induced Sideroblastic anemia
     Pyridoxine deficiency-induced sideroblastic anemia is a blood disorder caused insufficient quantities of pyridoxine. The body has sufficient iron levels but is unable to utilise it properly in red blood cells due to the lack of pyridoxine. The iron become...more »
    1249. Quinapril -- Teratogenic Agent
     There is evidence to indicate that exposure to Quinapril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure ...more »
    1250. Quinsy
     Tonsil abscess...more »
    1251. REST syndrome
     A condition that is similar to CREST syndrome but doesn't include calcinosis. The disorder affects the skin, blood vessels and digestive tract....more »
    1252. Rabson-Mendenhall syndrome
     A very rare genetic disorder involving severe insulin resistance which is where the body fails to be able to use insulin which is needed to control blood sugar levels....more »
    1253. Radiation-Induced Brachial Plexopathy
     A nerve injury that occurs as a complication of radiation treatment to the upper chest area....more »
    1254. Radio renal syndrome
     A very rare syndrome characterized mainly by kidney, forearm and and thumb abnormalities....more »
    1255. Radius absent -- anogenital anomalies
     A very rare syndrome characterized mainly by an absent radius (forearm bone) and anal and genital anomalies....more »
    1256. Ramipril -- Teratogenic Agent
     There is evidence to indicate that exposure to Ramipril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure a...more »
    1257. Raynaud's phenomenon
     Blood vessel constriction attacks affecting fingers and/or toes....more »
    1258. Reardon-Hall-Slaney syndrome
     A very rare syndrome characterized mainly by short limbs, cleft palate and permanently flexed fingers....more »
    1259. Reese-Ellsworth syndrome
     A rare disorder characterized by iridogoniodysgenesis (underdeveloped iris and fluid channels in the eye) as well as mental retardation, cleft palate, syndactyly and muscle disease....more »
    1260. Reiter’s syndrome
     A form of reactive arthritis characterized by arthritis, urethritis, conjunctivitis and skin lesions....more »
    1261. Retention of tears -- ectrodactyly -- ectodermal dysplasia -- strange hair, skin and teeth
     A rare syndrome characterized by a hand deformity and hair, skin and teeth abnormalities....more »
    1262. Retinopathy pigmentary -- intellectual deficit
     A rare syndrome characterized by eye disease and mental retardation....more »
    1263. Retinopathy pigmentary mental retardation
     A rare genetic condition characterized by degeneration of retinal pigments, cataracts, small head and mental retardation....more »
    1264. Retinopathy, pigmentary and mental retardation
     A rare syndrome characterized by eye disease and mental retardation....more »
    1265. Retropharyngeal abscess
     An abscess (pus-filled cavity) in the back of the throat. Prompt treatment is needed to avoid obstruction of airways and other complications including death....more »
    1266. Rett-like syndrome
     A very rare syndrome characterized mainly by neurological problems such as mental retardation and seizures as well as various physical anomalies....more »
    1267. Reynolds syndrome
     A very rare syndrome characterized mainly by scleroderma (hardened skin) and liver cirrhosis....more »
    1268. Rhizomelic dysplasia Patterson Lowry type
     A very rare syndrome characterized mainly by short upper arm and thigh bones....more »
    1269. Rhizomelic syndrome
     A very rare syndrome characterized mainly by short upper arm and thigh bones. Death frequently occurs in early childhood....more »
    1270. Richieri Costa Guion Almeida Cohen syndrome
     A very rare syndrome characterized mainly by premature fusion of skull bones, facial anomalies and various other abnormalities....more »
    1271. Richieri Costa Guion-Almeida syndrome
     A very rare syndrome characterized mainly by mental retardation, short stature, cleft lip/palate and eye anomalies....more »
    1272. Richieri-Costa-Silveira-Pereira syndrome
     A very rare syndrome characterized mainly by short stature, hand anomaly, clubfoot a cleft palate and various other abnormalities....more »
    1273. Rigid mask-like face -- deafness -- polydactyly
     A very rare syndrome characterized mainly by deafness, extra digits and a rigid, mask-like face....more »
    1274. Roberts-SC Phocomelia
     A rare genetic disorder characterized by limb deformities, midfacial defects and severe growth deficiency....more »
    1275. Robin sequence and oligodactyly
     A very rare syndrome characterized mainly by missing fingers, small jaw, tonge anomaly and a cleft palate....more »
    1276. Robin sequence oligodactyly
     A very rare syndrome characterized mainly by missing fingers, small jaw, tongue anomaly and a cleft palate....more »
    1277. Robinow syndrome, autosomal recessive
     A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and hypoplastic genitalia....more »
    1278. Robinow syndrome, recessive form
     A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and underdeveloped genitals....more »
    1279. Robinson-Miller-Bensimon syndrome
     A very rare syndrome characterized by deafness, malformed nails and other abnormalities....more »
    1280. Rocky Mountain spotted fever
     A bacterial disease caused by Rickettsia rickettsii and transmitted by ticks. The condition causes fever and a characteristic rash and may be fatal in severe or untreated cases....more »
    1281. Roy-Maroteaux-Kremp syndrome
     A very rare syndrome characterized mainly by skin lesions abnormal bone development and spastic paraplegia....more »
    1282. Rubinstein-Taybi Syndrome
     A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla....more »
    1283. Rud Syndrome
     A condition characterized by ichthyosis, epilepsy, short stature, hypogonadism and severe mental retardation....more »
    1284. Ruzicka-Goerz-Anton syndrome
     A rare genetic syndrome characterized by rough scaly skin, deafness, mental retardation and skeletal anomalies....more »
    1285. Saal-Bulas syndrome
     A very rare syndrome characterized mainly by lobster-like hands, diaphragmatic hernia and a brain abnormality....more »
    1286. Sacral meningocele -- conotruncal heart defects
     A very rare syndrome characterized by mainly by heart defects involving the heart outflow vessels and valves, tailbone meningocele and abnormal kidney development....more »
    1287. Saethre-Chotzen Syndrome
     A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalit...more »
    1288. Saethre-Chotzen syndrome, chromosome 7 p15.3p21.3
     A rare genetic disorder characterized by finger anomalies and premature joining of certain skull bones during development which has an impact on the shape of the head and face. There appears to be considerably variability of symptoms and clinical features...more »
    1289. Saethre-Chotzen syndrome, chromosome 7 p21.1p21.3
     A rare genetic disorder characterized by finger anomalies and premature joining of certain skull bones during development which has an impact on the shape of the head and face. There appears to be considerably variability of symptoms and clinical features...more »
    1290. Saito-Kuba-Tsuruta syndrome
     A very rare syndrome characterized by kidney abnormalities and an abnormal calf bone or forearm bone (ulna). Only a few cases of the syndrome have been reported....more »
    1291. Sakati syndrome
     A rare genetic condition characterized by head and digital anomalies as well as other abnormalities....more »
    1292. Sallis-Beighton syndrome
     A rare inherited syndrome characterized mainly by hand and foot abnormalities....more »
    1293. Santos Syndrome
     A rare syndrome observed in a six people from one family and characterized mainly by various skeletal problems....more »
    1294. Satoyoshi syndrome
     A very rare syndrome characterized by alopecia, diarrhea, skeletal abnormalities and painful leg cramps caused by physical exercise or emotional stress....more »
    1295. Say-Barber-Miller syndrome
     A very rare syndrome characterized mainly by immune system problems and a small head....more »
    1296. Say-Field-Coldwell syndrome
     A very rare syndrome characterized mainly by fingerlike thumbs and a dislocated kneecap....more »
    1297. Scabies
     Mite infection of the skin common in institutions....more »
    1298. Scalp -- ear -- nipple syndrome
     A very rare syndrome characterized mainly by scalp, nipple and ear abnormalities....more »
    1299. Scapulocostal syndrome
     Pain in the back and or shoulder that may involve other parts of the arms or chest. The cause is unknown but may be a result of postural problems....more »
    1300. Schafer syndrome
     A disorder characterized mainly by thickened skin on the palms and soles, white patches in mouth, mental and growth retardation and hair, nail and eye abnormalities....more »
    1301. Schinzel Giedion Syndrome
     A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations....more »
    1302. Scleroatonic muscular dystrophy
     An inherited disorder affecting muscles and resulting in muscle weakness and wasting that starts from birth. The joints closest to the body tend to have limited movement whereas those in the hands and feet tend to be hyperextensible....more »
    1303. Sclerocornea, Syndactyly, ambiguous genitalia
     A very rare syndrome characterized mainly by hardening of the corneas, webbed fingers and ambiguous genitalia....more »
    1304. Scleroderma, diffuse
     A rare autoimmune connective tissue disease where the body attacks parts of the body and causes scarring and thickness of the tissue. In the diffuse form the the disorder, large areas of skin as well as organs are involved. Death can occur....more »
    1305. Scleroderma, systemic
     A rare autoimmune connective tissue disease where the body attacks parts of the body and causes scarring and thickness of the tissue. In the systemic form, the skin and organs are involved....more »
    1306. Sclerosing bone dysplasia -- mental retardation
     A rare disorder characterized by abnormal hardening (sclerosis) of the bone and mental retardation....more »
    1307. Scott Craniodigital Syndrome
     A condition which is characterized by deformities of the cranium and fingers...more »
    1308. Scott syndrome
     A very rare inherited syndrome characterized by head and digital abnormalities as well as mental retardation....more »
    1309. Seal finger syndrome
     A type of finger infection that occurs in people involved with killing and skinning seals. The type of infection is unknown....more »
    1310. Seckel syndrome
     A rare condition characterized by fetal and postnatal growth retardation, mental retardation and characteristic facial features....more »
    1311. Seckel-like syndrome, type Buebel
     A rare syndrome characterized by dwarfism and other abnormalities characteristic of Seckel syndrome as well as hand and foot anomalies....more »
    1312. Seckle syndrome
     A rare genetic disorder characterized by short stature, microcephaly and a prominent nose....more »
    1313. Secobarbital -- Teratogenic Agent
     There is evidence to indicate that exposure to Secobarbital during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposu...more »
    1314. Secondary hypothyroidism
     Secondary hypothyroidism is a condition in which the activity of the thyroid gland is decreased, due to failure of the pituitary gland or hypothalamus...more »
    1315. Secondary pulmonary hypertension
     Secondary pulmonary hypertension refers to high blood pressure in the arteries that carry blood to the lungs. Blood pressure in other parts of the body is normal or sometimes even low. The condition may be caused by such things as lung conditions (e.g. em...more »
    1316. Selective Vitamin B12 malabsorption with Proteinuria
     A rare genetic blood disorder where a defect in the vitamin B12 receptor means that it can't be absorbed from food during digestion. As a result of the low vitamin B12 levels, the body produces increased numbers of abnormal enlarged red blood cells (megal...more »
    1317. Sener syndrome
     A very rare syndrome characterized mainly by an unusual facial appearance and an unusual condition where there a cystic spaces around blood vessels as they enter the brain....more »
    1318. Septo-Optic Dysplasia
     A rare birth defect characterized by impaired vision and pituitary deficiency....more »
    1319. Septooptic dysplasia -- digital anomalies
     A very rare syndrome characterized mainly by finger and toe abnormalities as well as abnormal development of the optic nerve and pituitary gland. Antenatal exposure to sedatives may be a factor in the cause of the disorder....more »
    1320. Serum sickness
     Type of allergic reaction to certain medications or serums...more »
    1321. Severe achondroplasia with developmental delay and acanthosis nigricans
     A very rare inherited disorder characterized by abnormal bone development and brain and skin abnormalities....more »
    1322. Shell nail syndrome
     A syndrome characterized by deterioration of the nail beds, clubbed fingers, inflammation around the bone and bronchiectasis....more »
    1323. Short rib -- polydactyly syndrome
     A very rare group of syndrome characterized mainly by short ribs and extra fingers. Often there are other associated abnormalities. The group of syndromes vary in severity and include Ellis Van Creveld's disease and Jeune's thoracic dystrophy as well as o...more »
    1324. Short rib-polydactyly syndrome, Majewski type
     A rare genetic disorder which is a lethal form of short-limb dwarfism and is characterized by short stature, disproportionately short limbs, extra fingers and toes and other deformities....more »
    1325. Short rib-polydactyly syndrome, Saldino-Noonan type
     A rare genetic disorder characterized by short stature, bone formation abnormalities, heart defects and other deformities....more »
    1326. Short rib-polydactyly syndrome, Verma-Naumoff type
     A rare lethal syndrome characterized by abnormal skeleton formation resulting in extra digits, short ribs, short limbs and genital anomalies....more »
    1327. Short ribs -- craniosynostosis -- polysyndactyly
     A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers....more »
    1328. Short stature -- contractures -- hypotonia
     A very rare syndrome characterized mainly by reduced muscle tone, short stature and contractures....more »
    1329. Short stature -- craniofacial anomalies -- genital hypoplasia
     A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies....more »
    1330. Short stature -- monodactylous -- ectrodactyly -- cleft palate
     A very rare syndrome characterized mainly by short stature, missing fingers and a cleft palate....more »
    1331. Short stature -- talipes -- natal teeth
     A very rare syndrome characterized mainly by short stature, early tooth eruption, and a foot deformity (talipes)....more »
    1332. Short stature -- valvular heart disease
     A very rare syndrome characterized mainly by short stature and heart valve disease....more »
    1333. Short stature cranial hyperostosis hepatomegaly diabetes
     A very rare syndrome characterized mainly by enlarged liver, diabetes, short stature and a thickened skull....more »
    1334. Short stature locking fingers
     A rare syndrome characterized by short stature and episodes of locked finger joints....more »
    1335. Short stature valvular heart disease characteristic facies
     A rare condition characterized by disproportionately short legs, droopy eyelids and heart valve lesions....more »
    1336. Short stature, cranial hyperostosis, hepatomegaly and diabetes
     A very rare syndrome characterized mainly by enlarged liver, diabetes, short stature and a thickened skull....more »
    1337. Shoulder and thorax deformity, congenital heart disease
     A very rare syndrome characterized by shoulder and thorax abnormalities and congenital heart disease....more »
    1338. Shprintzen-Golberg craniosynostosis
     A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems....more »
    1339. Sickle Cell Anemia
     Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destr...more »
    1340. Siderius type X-linked mental retardation syndrome
     A rare inherited form of mental retardation involving a defect on chromosome Xp11.2. The symptoms are evident in males but females may be carriers....more »
    1341. Sideroblastic anemia
     Sideroblastic anemia is a blood disorder where the body has sufficient iron levels but is unable to utilise it properly in red blood cells. The iron becomes abnormally deposited in red blood cells which make them unable to function properly. The condition...more »
    1342. Sideroblastic anemia, hereditary
     An inherited form of anemia where an enzyme deficiency prevents red blood cells from using iron properly. The red blood cells become overloaded with iron which impairs the blood's ability to carry oxygen....more »
    1343. Sideroblastic anemia, pyridoxine-responsive, autosomal recessive
     Pyridoxine-responsive sideroblastic anemia is a rare inherited blood disorder characterized by abnormal deposits of iron in the red blood cells which makes them unable to function properly. The condition is inherited in an autosomal recessive manner and r...more »
    1344. Sideropenic anemia
     Sideropenic anemia is a blood abnormality characterized by reduced iron levels in the plasma. It is a very common form of anemia....more »
    1345. Sillence syndrome
     An extremely rare genetic disorder primarily involving digit abnormalities, scoliosis and club feet....more »
    1346. Simethicone -- Teratogenic Agent
     There is evidence to indicate that exposure to Simethicone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...more »
    1347. Simpson-Golabi-Behmel syndrome
     A rare genetic disorder characterized by accelerated growth and other defects....more »
    1348. Simpson-Golabi-Behmel syndrome, type 1 (SGBS1)
     A rare genetic disorder characterized by accelerated growth, a peculiar face and other defects....more »
    1349. Simpson-Golabi-Behmel syndrome, type 2
     A rare genetic disorder characterized by hydrops fetalis and various other severe abnormalities. The condition usually results in death within two months of birth....more »
    1350. Simvastatin -- Teratogenic Agent
     There is evidence to indicate that exposure to Simvastatin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...more »
    1351. Single ventricular heart
     A rare birth defect where the heart has only one ventricle instead of two....more »
    1352. Skeletal dysplasia -- mental retardation
     A rare recessively inherited disorder characterized mainly by mental retardation, a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities....more »
    1353. Skeletal dysplasia -- orofacial anomalies
     A very rare disorder characterized mainly by face, mouth and skeletal abnormalities....more »
    1354. Sketetal dysplasia coarse facies mental retardation
     A rare skeletal disorder where the spine and long bones grow and develop abnormally as well as mental deterioration....more »
    1355. Smith-Lemli-Opitz syndrome, type 2
     A rare birth disorder where an enzyme deficiency (7-dehydrocholesterol reductase) prevents cholesterol being metabolized properly. The condition causes a variety of physical abnormalities. Type II is a more severe form of the condition....more »
    1356. Snyder-Robinson syndrome
     A rare syndrome characterized by mental retardation, reduced muscle tone, abnormal walk, weak bones and an asymmetrical face....more »
    1357. Soto's Syndrome
     A rare hereditary disorder characterized by excessive growth during the first few years of life as well as various other mental and physical anomalies....more »
    1358. Southwestern Athabaskan genetic diseases
     A group of four genetic diseases that are unique to the Navajo and Apache (Southwestern Athabaskan) populations. The disease are Athabaskan severe combined immunodeficiency, Navajo neurohepatopathy, Navajo poikiloderma and Athabaskan brainstem dysgenesis....more »
    1359. Spastic paraplegia nephritis deafness
     A very rare syndrome characterized mainly by spastic paraplegia, progressive kidney disease and deafness....more »
    1360. Spherocytic anemia
     Spherocytic anemia is a blood disorder characterized by red blood cells that are shaped like a sphere (spherocytes) rather than the normal doughnut shape. These abnormal cells are broken down prematurely resulting in a shortage of red blood cells (anemia)...more »
    1361. Spherophakia brachymorphia syndrome
     A rare genetic disorder characterized by short stature, and craniofacial, eye, tooth and limb abnormalities....more »
    1362. Spinal Muscular Atrophy type III
     Type of SMA, a genetic motor neuron disease affecting nerves and muscles....more »
    1363. Spinal muscular atrophy, type I, with congenital bone fractures
     A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Bone fractures also occur in newborn infants....more »
    1364. Spinocerebellar ataxia, autosomal recessive 7
     A rare, recessively inherited neurological disorder caused by abnormalities in the cerebellum and spinal cord. The severity of the disorder is variable....more »
    1365. Split Hand/Split Foot Malformation
     A condition which is characterized by a malformation of the hand or foot...more »
    1366. Split hand -- split foot
     A rare malformation where the middle digits and associated hand or foot bones are missing, giving the hand and foot a split appearance. One or more limbs may be affected and sometimes the remaining digits are webbed which can give them a "lobster-claw" li...more »
    1367. Split hand/foot malformation X-linked
     A rare genetic condition characterized by missing or underdeveloped bones in the hands and feet giving them a split appearance. The deformity is inherited in a X-linked manner....more »
    1368. Split hand/split foot malformation, autosomal recessive
     A rare recessively inherited malformation involving missing or underdeveloped bones in the hands and feet giving them a split appearance....more »
    1369. Split-Hand/Foot Malformation with Long Bone Deficiency 1
     A very rare condition characterized by hand and foot malformations involving clefting as well as absent or underdeveloped bones in the limbs. The manifestations of the condition are variable ranging from simply underdeveloped big toes to the absence of va...more »
    1370. Split-Hand/Foot Malformation with Long Bone Deficiency 2
     A very rare condition characterized by hand and foot malformations involving clefting as well as absent or underdeveloped bones in the limbs. The manifestations of the condition are variable ranging from simply underdeveloped big toes to the absence of va...more »
    1371. Split-Hand/Foot Malformation with Long Bone Deficiency 3
     A very rare condition characterized by hand and foot malformations involving clefting as well as absent or underdeveloped bones in the limbs. The manifestations of the condition are variable ranging from simply underdeveloped big toes to the absence of va...more »
    1372. Split-hand deformity
     A rare genetic disorder where fingers or parts of fingers are missing. It is usually associated with a cleft of the hand which gives the hand a claw-like appearance....more »
    1373. Spondylocostal dysostosis, Dandy-Walker
     A rare syndrome characterized mainly by rib and spine abnormalities as well as the Dandy-Walker anomaly (brain cyst)....more »
    1374. Spondylocostal dysostosis, autosomal recessive 2
     A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities resulting in a short trunk and neck as well as long thin fingers....more »
    1375. Spondyloepimetaphyseal dysplasia with abnormal dentition
     A rare skeletal disorder where the spine and long bones grow and develop abnormally. This particular type also involves tooth abnormalities....more »
    1376. Spondyloepimetaphyseal dysplasia with joint laxity
     A rare skeletal disorder where the spine and long bones grow and develop abnormally. Loose joints and severe curvature of the spine is also present. The condition is severe and death in the first couple of decades is common....more »
    1377. Spondyloepimetaphyseal dysplasia with multiple dislocations
     A very rare syndrome characterized by abnormal bone growth and multiple joint dislocations....more »
    1378. Spondyloepimetaphyseal dysplasia, X linked with mental deterioration
     A rare skeletal disorder where the spine and long bones grow and develop abnormally as well as mental deterioration....more »
    1379. Spondyloepimetaphyseal dysplasia, X-linked
     A rare skeletal disorder where the spine and long bones grow and develop abnormally. The trunk and fingers are short....more »
    1380. Spondyloepimetaphyseal dysplasia, micromelic
     A rare skeletal disorder where the spine and long bones grow and develop abnormally. This particular type is characterized by short stature, short limbs and spinal abnormalities....more »
    1381. Spondyloepiphyseal dysplasia -- brachydactyly and distinctive speech
     A rare disorder characterized by an unusual voice, characteristic facial appearance and various skeletal abnormalities such as short hands, feet and digits....more »
    1382. Spondylohypoplasia arthrogryposis popliteal pterygium
     A very rare inherited syndrome characterized by webbing at the back of the knees, spinal defects and various other skeletal abnormalities....more »
    1383. Spondylohypoplasia, arthrogryposis and popliteal pterygium
     A very rare inherited syndrome characterized by webbing at the back of the knees, spinal defects and various other skeletal abnormalities....more »
    1384. Spondyloperipheral dysplasia -- short ulna
     A rare inherited disorder characterized by a short forearm bone (ulna) and other skeletal anomalies such as short hands and feet....more »
    1385. Stevenson-Carey syndrome
     A rare syndrome involving various congenital abnormalities and mental retardation....more »
    1386. Stickler Syndrome
     A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities....more »
    1387. Stickler Syndrome, type I
     A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 1 is caused by a genetic defect on chromosome 12q13.11-q13.2...more »
    1388. Stickler Syndrome, type II
     A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 2 is caused by a genetic defect on chromosome 1p21...more »
    1389. Stickler Syndrome, type III
     A rare genetic disorder characterized by joint problems, distinctive facial characteristics and ear abnormalities. Type 3 is caused by a genetic defect on chromosome 6q21.3. Type 3 doesn't involve any of the eye problems that occur in type 1 and 2....more »
    1390. Stickler's syndrome
     A condition which is characterized by a hereditary progressive arthro-ophthalmopathy...more »
    1391. Stoll Levy Francort Syndrome
     A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm....more »
    1392. Stoll-Alembik-Finck syndrome
     A very rare syndrome characterized mainly by muscle, skin, sweating, tooth and facial abnormalities....more »
    1393. Stratton-Parker syndrome
     A very rare syndrome characterized by short stature, heart positioned on the wrong side of the chest (dextrocardia) and a bone development anomaly....more »
    1394. Stroke-like aphasia
     Inability to produce and comprehend language....more »
    1395. Stuve-Wiedemann dysplasia
     A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers....more »
    1396. Stuve-Wiedemann syndrome
     A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers....more »
    1397. Sucralfate -- Teratogenic Agent
     There is evidence to indicate that exposure to Sucralfate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure...more »
    1398. Suffocation
     A state of asphyxiation that results in the arrest of respiration...more »
    1399. Sugarman II syndrome
     A rare genetic disorder characterized by short fingers and toes due to shortening of the finger and toe bones closest to the palm and sole. Duplication of the big toe is also present...more »
    1400. Sugarman syndrome
     A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger, teeth and eye abnormalities....more »
    1401. Sulphasalazine -- Teratogenic Agent
     There is evidence to indicate that exposure to Sulphasalazine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expo...more »
    1402. Sumatriptan -- Teratogenic Agent
     There is evidence to indicate that exposure to Sumatriptan during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...more »
    1403. Summitt syndrome
     A very rare genetic disorder abnormalities of the head, hands and feet as well as obesity....more »
    1404. Surfactant Metabolism Dysfunction
     Surfactant metabolism dysfunction is a group of genetic conditions characterized by servere breathing problems or breathing failure in infants who were born at full term. A genetic defect results in a disruption of the lipids and proteins which reduced th...more »
    1405. Surfactant Metabolism Dysfunction, Pulmonary, 1
     Surfactant metabolism dysfunction is a group of genetic conditions characterized by severe breathing problems or breathing failure in infants who were born at full term. A genetic defect results in a disruption of the lipids and proteins which reduced the...more »
    1406. Surfactant Metabolism Dysfunction, Pulmonary, 2
     Surfactant metabolism dysfunction is a group of genetic conditions characterized by severe breathing problems or breathing failure in infants who were born at full term. A genetic defect results in a disruption of the lipids and proteins which reduced the...more »
    1407. Surfactant Metabolism Dysfunction, Pulmonary, 3
     Surfactant metabolism dysfunction is a group of genetic conditions characterized by severe breathing problems or breathing failure in infants who were born at full term. A genetic defect results in a disruption of the lipids and proteins which reduced the...more »
    1408. Symphalangism -- brachydactyly -- craniosynostosis
     A very rare syndrome characterized mainly by the association of short digits, premature fusion of skull bones and fused joints in digits....more »
    1409. Symphalangism distal
     A finger deformity where one or more end joints of fingers or toes are fused. The index finger is the most common digit involved....more »
    1410. Symphalangism with multiple anomalies of hands and feet
     A rare syndrome characterized mainly by fused finger and toe joints as well as other hand and foot anomalies....more »
    1411. Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
     A very rare syndrome characterized mainly by small teeth, underdeveloped wrist bones and fusion of the joints in the ends of the fingers....more »
    1412. Syndactyly -- cataract -- mental retardation
     A very rare syndrome characterized mainly by webbed fingers and toes, cataract and mental retardation....more »
    1413. Syndactyly -- preaxial polydactyly -- sternal deformity
     A rare disorder characterized by extra fingers and toes, fusion of fingers and toes and anomalies involving the abdominal and chest wall....more »
    1414. Syndactyly type 1 -- microcephaly -- mental retardation
     A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features....more »
    1415. Syndactyly type 5
     A birth defect involving webbed fingers and toes - usually between 3rd and 4th fingers and 2nd and 3rd toes. There is also fusion of some of the long bones in the hand (metacarpals) and feet (metatarsals)....more »
    1416. Syndactyly, type 2
     A birth defect involving webbing between the 3rd and 4th fingers as well as duplication of all or some of the fourth digit within the webbed tissue. The foot may also be involved with webbing between the 4th and 5th toe with an extra 5th toe in the webbed...more »
    1417. Syringomyelia, cervical lesion
     A slowly-progressing neurological disorder characterized by a fulid-filled cavity in the spinal cord in the neck region....more »
    1418. Systemic Lupus Erythematosus with Hemolytic Anemia, Susceptibility to, 1
     Systemic Lupus Erythematosus is an autoimmune disease affecting mostly women and causing various effects throughout different parts of the body. Its severity can range from very mild to extremely serious depending on which body organs are afflicted. Resea...more »
    1419. Systemic Lupus Erythematosus with Nephritis, Susceptibility to, 1
     Systemic Lupus Erythematosus is an autoimmune disease affecting mostly women and causing various effects throughout different parts of the body. Its severity can range from very mild to extremely serious depending on which body organs are afflicted. Resea...more »
    1420. Systemic Lupus Erythematosus with Vitiligo, Susceptibility to, 1
     Systemic Lupus Erythematosus is an autoimmune disease affecting mostly women and causing various effects throughout different parts of the body. Its severity can range from very mild to extremely serious depending on which body organs are afflicted. Resea...more »
    1421. Systemic Lupus Erythematosus, Susceptibility to, 1
     Systemic Lupus Erythematosus is an autoimmune disease affecting mostly women and causing various effects throughout different parts of the body. Its severity can range from very mild to extremely serious depending on which body organs are afflicted. Resea...more »
    1422. Systemic Lupus Erythematosus, Susceptibility to, 10
     Systemic Lupus Erythematosus is an autoimmune disease affecting mostly women and causing various effects throughout different parts of the body. Its severity can range from very mild to extremely serious depending on which body organs are afflicted. Resea...more »
    1423. Systemic Lupus Erythematosus, Susceptibility to, 11
     Systemic Lupus Erythematosus is an autoimmune disease affecting mostly women and causing various effects throughout different parts of the body. Its severity can range from very mild to extremely serious depending on which body organs are afflicted. Resea...more »
    1424. Systemic Lupus Erythematosus, Susceptibility to, 12
     Systemic Lupus Erythematosus is an autoimmune disease affecting mostly women and causing various effects throughout different parts of the body. Its severity can range from very mild to extremely serious depending on which body organs are afflicted. Resea...more »
    1425. Systemic Lupus Erythematosus, Susceptibility to, 13
     Systemic Lupus Erythematosus is an autoimmune disease affecting mostly women and causing various effects throughout different parts of the body. Its severity can range from very mild to extremely serious depending on which body organs are afflicted. Resea...more »
    1426. Systemic Lupus Erythematosus, Susceptibility to, 2
     Systemic Lupus Erythematosus is an autoimmune disease affecting mostly women and causing various effects throughout different parts of the body. Its severity can range from very mild to extremely serious depending on which body organs are afflicted. Resea...more »
    1427. Systemic Lupus Erythematosus, Susceptibility to, 3
     Systemic Lupus Erythematosus is an autoimmune disease affecting mostly women and causing various effects throughout different parts of the body. Its severity can range from very mild to extremely serious depending on which body organs are afflicted. Resea...more »
    1428. Systemic Lupus Erythematosus, Susceptibility to, 4
     Systemic Lupus Erythematosus is an autoimmune disease affecting mostly women and causing various effects throughout different parts of the body. Its severity can range from very mild to extremely serious depending on which body organs are afflicted. Resea...more »
    1429. Systemic Lupus Erythematosus, Susceptibility to, 5
     Systemic Lupus Erythematosus is an autoimmune disease affecting mostly women and causing various effects throughout different parts of the body. Its severity can range from very mild to extremely serious depending on which body organs are afflicted. Resea...more »
    1430. Systemic Lupus Erythematosus, Susceptibility to, 6
     Systemic Lupus Erythematosus is an autoimmune disease affecting mostly women and causing various effects throughout different parts of the body. Its severity can range from very mild to extremely serious depending on which body organs are afflicted. Resea...more »
    1431. Systemic Lupus Erythematosus, Susceptibility to, 7
     Systemic Lupus Erythematosus is an autoimmune disease affecting mostly women and causing various effects throughout different parts of the body. Its severity can range from very mild to extremely serious depending on which body organs are afflicted. Resea...more »
    1432. Systemic Lupus Erythematosus, Susceptibility to, 8
     Systemic Lupus Erythematosus is an autoimmune disease affecting mostly women and causing various effects throughout different parts of the body. Its severity can range from very mild to extremely serious depending on which body organs are afflicted. Resea...more »
    1433. Systemic Lupus Erythematosus, Susceptibility to, 9
     Systemic Lupus Erythematosus is an autoimmune disease affecting mostly women and causing various effects throughout different parts of the body. Its severity can range from very mild to extremely serious depending on which body organs are afflicted. Resea...more »
    1434. T-cell immunodeficiency, congenital alopecia and nail dystrophy
     A rare recessively inherited disorder characterized mainly by alopecia, abnormal nails and immunodeficiency (T-cell)....more »
    1435. TAU syndrome
     A very rare syndrome characterized mainly by reduced blood platelet level and absent ulna bone (forearm bone)....more »
    1436. TDO type II
     A rare genetic ectodermal disorder characterized by kinky hair, tooth enamel and bone abnormalities and differs from type I mainly by a small head and increased long bone density....more »
    1437. Tabatznik syndrome
     A very rare syndrome involving heart and hand abnormalities....more »
    1438. Talipes equinovarus
     A congenital foot deformity where the end of the foot is abnormally angled, usually inwards and downwards. It often occurs due to crowding in the womb. The foot is unable to be placed flatly on the ground....more »
    1439. Tardive Dyskinesia
     The toxic neurological side effects of neuroleptic drugs that have been used long term....more »
    1440. Tarsal carpal coalition syndrome
     A very rare syndrome characterized mainly by fused ankle and wrist bones....more »
    1441. Taurodontia -- absent teeth -- sparse hair
     A very rare syndrome characterized mainly by missing teeth, large tooth pulp chambers and sparse hair....more »
    1442. Taussig Bing syndrome
     A very rare birth defect where the aorta and the pulmonary artery both exit from the right ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs. In the...more »
    1443. Teebi-Kaurah syndrome
     A very rare syndrome characterized mainly by a small head and absent nails....more »
    1444. Tel-Hashomer camptodactyly syndrome
     A very rare syndrome characterized mainly by finger flexion, facial anomalies, short stature and muscle problems....more »
    1445. Temtamy preaxial brachydactyly syndrome
     A rare syndrome characterized by mental retardation, deafness, retarded growth, finger abnormalities and various other anomalies....more »
    1446. Temtamy syndrome
     A rare disorder characterized by a brain abnormality, unusual facial appearance and eye coloboma....more »
    1447. Terfenadine -- Teratogenic Agent
     There is evidence to indicate that exposure to Terfenadine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...more »
    1448. Tertiary hypothyroidism
     Tertiary hypothyroidism results from a malfunction of the hypothalamus, the part of the brain that controls the endocrine system....more »
    1449. Tetanus toxoid -- Teratogenic Agent
     There is evidence to indicate that exposure to Tetanus toxoid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expo...more »
    1450. Tetany
     Sensation changes and muscle symptoms from low blood calcium...more »
    1451. Tetracycline -- Teratogenic Agent
     There is evidence to indicate that exposure to Tetracycline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposu...more »
    1452. Tetramelic deficiencies -- Ectodermal dysplasia -- deformed ears -- other abnormalities
     An extremely rare syndrome characterized by tooth, hair and limb abnormalities. The abnormalities can be quite severe in some cases. The parents may have been related in the reported cases....more »
    1453. Thiopropazate -- Teratogenic Agent
     There is evidence to indicate that exposure to Thiopropazate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expos...more »
    1454. Thomas Syndrome -- Potter Sequence with cleft lip/palate and cardiac anomalies
     A rare condition characterized mainly by heart anomalies, a cleft lip or palate and Potter sequence which is a characteristic physical appearance observed in infants who experienced insufficient amniotic fluid in the womb....more »
    1455. Thompson-Baraitser syndrome
     A very rare syndrome characterized mainly by liver fibrosis, kidney cysts and mental retardation....more »
    1456. Thoracic outlet syndrome
     Pinched shoulder/arm nerve....more »
    1457. Thrombocytopenia -- Robin sequence
     A very rare syndrome characterized by a variety of abnormalities such as short stature, unusual hair, reduced blood platelets, heart defects and tooth enamel anomaly....more »
    1458. Thumb absence -- hypoplastic halluces
     A rare syndrome characterized mainly by missing thumbs and underdeveloped big toes....more »
    1459. Thumb deformity, alopecia, pigmentation anomaly
     A very rare syndrome characterized mainly by a deformed thumb, lack of hair and abnormal pigmentation....more »
    1460. Thymic-Renal-Anal-Lung dysplasia
     A rare syndrome characterized by abnormalities involving the lungs, anus, kidneys and thymus....more »
    1461. Thyroid agenesis
     A rare disorder where the thyroid fails to develop resulting in hypothyroidism from birth....more »
    1462. Tibial aplasia -- ectrodactyly -- hydrocephalus
     A rare syndrome characterized mainly by a build up of fluid inside the skull (hydrocephaly), shin bone abnormalities and a split hand deformity....more »
    1463. Tibial aplasia ectrodactyly
     A rare genetic disorder characterized by split hands and/or feet and absence of long bones of the arms or legs....more »
    1464. Timothy syndrome
     A rare syndrome characterized by webbed fingers and a heart defect. Most affected individuals die during early childhood or infancy....more »
    1465. Tinea
     A general term for various fungal skin afflictions; often incorrectly called ringworm....more »
    1466. Tinea unguium
     A condition which is characterized by tinea of the nails...more »
    1467. Tollner-Horst-Manzke syndrome
     A very rare syndrome characterized by extra fingers, cleft lip, cleft palate and abdominal organ anomalies....more »
    1468. Tolmetin -- Teratogenic Agent
     There is evidence to indicate that exposure to Tolmetin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure a...more »
    1469. Tooth and Nail syndrome
     A syndrome that is characterized by the occurrence of nail dysplasia and tooth abnormalities. Primary teeth are usually normal but some secondary teeth may be missing. The toenails tend to be more affected than the fingernails....more »
    1470. Townes-Brocks Syndrome
     A rare condition characterized by anal, hand, foot and ear abnormalities....more »
    1471. Toxin-induced Sideroblastic anemia
     Toxin-induced sideroblastic anemia is a blood disorder caused by toxins such as lead or zinc poisoning. The body has sufficient iron levels but is unable to utilise it properly in red blood cells. The iron becomes abnormally deposited in red blood cells w...more »
    1472. Triazolam -- Teratogenic Agent
     There is evidence to indicate that exposure to Triazolam during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure ...more »
    1473. Trichinosis
     Worm infection usually caught from pigs...more »
    1474. Tricho odonto onycho dermal syndrome
     A very rare syndrome characterized by hair, tooth, nail and skin abnormalities....more »
    1475. Tricho-dento-osseous syndrome
     A rare genetic disorder characterized by kinky hair, tooth enamel and bone abnormalities. There are two different subtypes with type I being distinguished from type II by the presence of a small head and increased density in the long bones....more »
    1476. Tricho-dento-osseous syndrome II
    1477. Tricho-dento-osseous syndrome type
    1478. Tricho-dento-osseous syndrome type I
     A rare genetic ectodermal disorder characterized by kinky hair, tooth enamel and bone abnormalities....more »
    1479. Tricho-odonto-onychial dysplasia
     A very rare syndrome characterized by abnormal skull calcification, reduced scalp hair and nail and tooth enamel abnormalities....more »
    1480. Tricho-onychic dysplasia
     A rare genetic syndrome characterized by hair and nail abnormalities....more »
    1481. Trichorhinophalangeal Syndrome Type I
    1482. Trichorhinophalangeal Syndrome Type II
    1483. Trichorhinophalangeal syndrome type 1
     A rare genetic disorder characterized by bulbous nose, sparse hair and coning of epiphyses....more »
    1484. Trichorhinophalangeal syndrome type 2
     A rare genetic disorder characterized by bony growths, bulbous nose, distinctive facial features and loose excess skin during infancy....more »
    1485. Trichorrhexis nodosa syndrome
     A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in i...more »
    1486. Trichothiodystrophy, type C
     A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in i...more »
    1487. Tricuspid atresia
     A rare congenital malformation where the tricuspid valve is absent and hence the right atrium is not connected to the right ventricle...more »
    1488. Trigonocephaly -- bifid nose -- acral anomalies
     A rare syndrome characterized mainly by a prominent triangular shaped forehead, short head, bulbous nose, small jaw, large mouth, poor muscle tone and foot abnormalities....more »
    1489. Trigonocephaly -- broad thumbs
     A rare syndrome characterized mainly by broad thumbs and a prominent triangular shaped forehead....more »
    1490. Triphalangeal thumb -- polysyndactyly syndrome
     A very rare syndrome characterized mainly by webbed fingers and a thumb that has three bones instead of the normal two....more »
    1491. Triploid syndrome
     A complete extra set of chromosomes....more »
    1492. Trisomy 13 mosaicism
     A very rare chromosomal disorder where there is an extra copy of chromosome 13 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cell...more »
    1493. Trisomy 18 Syndrome
     A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Edwards syndrome is more severe than the mor...more »
    1494. Trisomy 18 mosaicism
     A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18 in only some of the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of chromosome 18 in all of the body'...more »
    1495. Trisomy 19 mosaicism
     A very rare chromosomal disorder where there is an extra copy of chromosome 19 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cell...more »
    1496. Trisomy 22 mosaicism
     A very rare chromosomal disorder where there is an extra copy of chromosome 22 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cell...more »
    1497. Trisomy 4 mosaicism
     A very rare chromosomal disorder where there is an extra copy of chromosome 4 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells...more »
    1498. Trisomy 6
     A rare chromosomal disorder involving the duplication of chromosome 6 which results in variable symptoms including mental retardation, retarded growth, facial anomalies and various other abnormalities. Full Trisomy 6 is results in spontaneous abortion whe...more »
    1499. Trisomy 6 mosaicism
     A very rare chromosomal disorder where there is an extra copy of chromosome 6 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells...more »
    1500. Trueb-Burg-Bottani syndrome
     A very rare genetic syndrome characterized by hair, teeth and nail abnormalities as well as webbed fingers....more »
    1501. Tsukuhara syndrome
     A very rare syndrome characterized mainly by a curved spine, premature fusion of skull bones and a small head....more »
    1502. Tuffli-Laxova syndrome
     A rare disorder characterized tooth, nail and skin abnormalities as well as an adrenal cyst....more »
    1503. Tukel syndrome
     A rare syndrome involving restricted eye movement and droopy eyelid and hand deformities affecting primarily the right eye and right hand....more »
    1504. Turner Syndrome
     Rare chromosome syndrome with one X but no second X or Y chromosome....more »
    1505. Ulna hypoplasia with mental retardation
     A condition which is characterised by short upper limbs, club feet, and absence of fingernails....more »
    1506. Ulnar hypoplasia with mental retardation
     A condition which is characterised by short upper limbs, club feet, and absence of fingernails...more »
    1507. Ulnar nerve injury
     Damage to the ulnar nerve in the elbow and arm....more »
    1508. Unusual facies and autosomal dominant hypohidrotic ectodermal dysplasia
     A rare syndrome characterized mainly by an unusual facial appearance and hair, nail, teeth and sweating abnormalities....more »
    1509. Unusual facies, arachnodactyly, hypogenitalism and failure to thrive
     A very rare syndrome characterized by an unusual facial appearance, small genitals, failure to thrive and long, thin fingers....more »
    1510. Unusual facies, digital anomalies, and supernumerary teeth
     A rare, dominantly inherited syndrome characterized mainly by an unusual face, extra teeth and anomalies of the fingers and toes....more »
    1511. Unusual facies, macrocephaly, aplasia of corpus callosum, seizures, hypertrichosis, claw hands and overlapping fingers
     A rare syndrome characterized mainly by a large head, unusual facial appearance, seizures, excessive hair growth, claw hands, overlapping fingers and abnormal brain structure....more »
    1512. Unusual facies, oligodontia and precocious choroid calcifications
     A rare syndrome characterized mainly by an unusual facial appearance, missing teeth and calcification of part of the brain called the choroid plexus....more »
    1513. Unusual facies, preauricular pits, fifth finger clinodactyly and tetralogy of Fallot
     A rare syndrome characterized mainly by facial anomalies, finger defect and a heart abnormality....more »
    1514. Upton Young syndrome
     A syndrome which is characterised by the association of multiple symptoms including mental retardation and multiple nevi...more »
    1515. Urban Roger Meyer syndrome
     A syndrome which is characterised by genital anomalies, mental retardation, and obesity...more »
    1516. Urophathy distal obstructive polydactyly
     A rare syndrome characterized by extra digits and an obstructive urinary system disorder....more »
    1517. VACTERL association
     A rare syndrome characterized by often severe deformities involving the limbs, kidneys, anus, heart, esophagus and spine....more »
    1518. VATER association
     An association of congenital abnormalities that consists of vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia...more »
    1519. Vagneur Triolle Ripert syndrome
     A condition that is characterised by lymphoedema of the lower extremities and recurrent respiratory system problems...more »
    1520. Valproic acid antenatal infection
     A condition which usually occurs in a fetus due to the mother taking valproic acid for epileptic seizures...more »
    1521. Van Maldergem Wetzburger Verloes syndrome
     A syndrome characterised by abnormalities of the cerebrum, face, and articular joints....more »
    1522. Varadi Papp syndrome
     A syndrome characterised by deformities of the oral-facial-digital areas...more »
    1523. Varicella Vaccine -- Teratogenic Agent
     There is evidence to indicate that exposure to Varicella Vaccine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of e...more »
    1524. Vasotec -- Teratogenic Agent
     There is evidence to indicate that exposure to Vasotec (an ACE inhibitor) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the l...more »
    1525. Velocardiofacial syndrome
     A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 dif...more »
    1526. Velofacioskeletal syndrome
     A ver rare sydnrome characterized mainly by short stature and facial and skeletal abnormalities....more »
    1527. Venencie Powell Winkelmann syndrome
     A congenital condition that is characterised by the occurrence of a number of clinical signs and symptoms...more »
    1528. Ventricular septal defect
     An abnormal connection between the 2 lower chambers (ventricles) of the heart....more »
    1529. Ventruto Digirolamo Festa syndrome
     A rare syndrome characterized primarily by premature fusion of skull bones and finger, toe and hip abnormalities....more »
    1530. Verloes-David Syndrome
     An inherited condition characterised by shortness of stature and multiple skeletal abnormalities....more »
    1531. Viljone Kallis Voges syndrome
     A syndrome characterised by microcephaly, short stature, brachydactyly, low set ears, prominent nose and mental retardation...more »
    1532. Vitamin B12 Deficiency
     A deficiency of Vitamin B12 primarily causes anemias the body is unable to make sufficient quantities of normal red blood cells. Severe cases can lead to permanent nervous system problems. The vitamin B12 deficiency can result from absorption problems, in...more »
    1533. Vitamin deficiency
     When there is any deficiency of vitamins in the body...more »
    1534. Vohwinkel syndrome
     A rare condition where tight bands of thickened skin form around the base of fingers and toes and generally leads to self-amputation of the digit. Hearing loss is also associated with the condition....more »
    1535. WT limb blood syndrome
     A rare genetic disorder characterized by blood and limb abnormalities....more »
    1536. Waardenburg syndrome, type 3
     A rare syndrome involving deafness, pigmentation and musculoskeletal abnormalities...more »
    1537. Walbaum Titran Durieux Crepin syndrome
     A syndrome characterised by multiple abnormalities...more »
    1538. Watermelon stomach
     The dilation of the blood vessels in the antral of the stomach...more »
    1539. Weaver Syndrome
     A syndrome that is considered a variant of the Marshall-Smith syndrome...more »
    1540. Weaver like syndrome
     A rare genetic syndrome characterized by a large mouth, unusual facial features, skeletal anomalies and other abnormalities. The disorder is similar to another genetic disorder called Weaver syndrome but tends to involve endocrinologic abnormalities as we...more »
    1541. Werner syndrome
     A form of premature aging where sufferers start aging during adolescence or soon after and appear old by the time they reach their 30's or 40's. Milder forms of the condition may also occur....more »
    1542. Whelan syndrome
     A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps, finger abnormalities and hydronephrosis....more »
    1543. Whistling face syndrome, recessive form
     A rare, recessively inherited syndrome characterized mainly by a characteristic "whistling" face and hand anomalies. The range of symptoms are variable....more »
    1544. Whitlow
     Fingertip soft pad infection...more »
    1545. Wiedemann Oldigs Oppermann syndrome
     A rare syndrome characterized mainly by excessive hair growth, mental retardation and skeletal abnormalities....more »
    1546. Wiedemann-Tolksdorf syndrome
     A syndrome involving mental retardation, speech problems, rapid growth, unusual face and finger and toe anomalies....more »
    1547. Wilkes Stevenson syndrome
     A syndrome that is characterised by multiple congenital abnormalities...more »
    1548. Willems De vries syndrome
     A syndrome that is characterised by prominent short limbs, subluxed knees and a cleft palate...more »
    1549. Williams Syndrome
     A syndrome characterised by mental retardation, facial abnormalities and emotional instability...more »
    1550. Winter Shortland Temple syndrome
     A congenital syndrome characterised by multiple birth defects and dysmorphic features...more »
    1551. Witkop syndrome
     A syndrome that is characterised by the occurrence of nail dysplasia and tooth abnormalities due to a mutation in the MSX1 gene...more »
    1552. Writer's cramp
     A condition which is characterized by cramping of the intrinsic muscles of the hand due to use...more »
    1553. X-linked alpha thalassemia mental retardation syndrome (ATR-X)
     An x-linked condition that features mental retardation, dysmorphic features, and alpha thalassemia...more »
    1554. X-linked sideroblastic anaemia
    1555. X-linked sideroblastic anemia
     X-linked sideroblastic anemia is a rare inherited blood disorder characterized by abnormal deposits of iron in the red blood cells which makes them unable to function properly. The body continues to absorb more iron from digesting food in order to try and...more »
    1556. XK aprosencephaly
     An extremely rare condition where the forebrain is absent as well as other abnormalities....more »
    1557. Yellow nail syndrome
     A rare nail condition characterized by thickened yellow nails as well as swelling of parts of the body due to lymphatic drainage problems resulting from blocked or damaged lymphatic system....more »
    1558. Yunis Varon syndrome
     A multisystem genetic disease that affects the skeletal system in particular...more »
    1559. Zanier-Roubicek syndrome
     An inherited syndrome characterized by reduced sweating, hyperthermia, sparse hair, missing teeth and brittle nails....more »
    1560. Zellweger Syndrome
     Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spect...more »
    1561. Zellweger-like syndrome, without peroxisomal anomalies
     A rare syndrome characterized by unusual facial appearance, very low muscle tone, mental retardation and metabolic defects....more »
    1562. Zidovudine -- Teratogenic Agent
     There is evidence to indicate that exposure to Zidovudine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure...more »
    1563. Zimmerman-Laband syndrome
     A rare inherited condition characterized by fibrosis of the gums and ear, nose, nail and finger abnormalities....more »
    1564. Zlotogora syndrome
     A condition that is characterised by facial dysmorphism and psychiatric problems...more »
    1565. Zuclopenthixol -- Teratogenic Agent
     There is evidence to indicate that exposure to Zuclopenthixol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expo...more »

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