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Symptom Checker » Burning pain at rest » Hand and foot rashes in children
 

Burning pain at rest and Hand and foot rashes in children and Miscarriage and Occasional iritis and Stiff joints
Symptom Checker

Results: Causes of Burning pain at rest AND Hand and foot rashes in children AND Miscarriage AND Occasional iritis AND Stiff joints

    1. Borreliosis
     An infectious bacterial disorder that is transmitted by ticks and causes skin rashes joint swelling and other symptoms similar to the flu....read more »

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

Results: 527 causes of Burning pain at rest OR Hand and foot rashes in children OR Miscarriage OR Occasional iritis OR Stiff joints

    1. 3-Hydroxyisobutyric aciduria
     A rare inborn metabolic disorder which causes brain and facial anomalies, seizures and growth problems....more »
    2. Aase-Smith I syndrome
     A very rare hereditary syndrome characterized by deformities such as joint contractures, anemia, hydrocephalus and cleft palate....more »
    3. Achondrogenesis type 1A
     A rare genetic disorder characterized by abnormal cartilage formation and growth of bones. Type 1A differs from other types by the origin of the genetic defect. Type 1A involves abnormal cartilage-forming cells (chondrocytes) whereas type 1B involves an a...more »
    4. 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 »
    5. Achondrogenesis type 1B
     A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine....more »
    6. Achondrogenesis type 2
     A rare genetic disorder characterized by very small stature, abnormal bone formation and early death....more »
    7. Achondrogenesis, type 3
     Severely abnormal bone development which invariably results in death before or soon after birth. Type III may actually be a part of achondrogenesis type II....more »
    8. Acrodermatitis Enteropathica
     A rare inherited malabsorption disorder where the body is unable to absorb zinc in adequate quantities....more »
    9. Acrofacial dysostosis Preis type
     One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable....more »
    10. 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 »
    11. Acromesomelic dysplasia Brahimi Bacha type
     A very rare genetic malformation syndrome characterized primarily by developmental abnormalities of the face and skeletal bones....more »
    12. Acromesomelic dysplasia Hunter Thompson type
     A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones....more »
    13. Acromesomelic dysplasia, Maroteaux type
     A rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies....more »
    14. Acrorenal syndrome
     A rare lethal syndrome characterized limb anomalies and kidney malformations....more »
    15. Acrorenal syndrome recessive
     A rare, recessively inherited disorder characterized by the association of kidney and hand and foot abnormalities....more »
    16. Acute leukemia
     An acute condition which affects a cell line of the blood which shows little or no differentiation...more »
    17. 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 »
    18. Agnathia-holoprosencephaly-situs inversus
     A very rare disorder characterized by a small or absent jaw, developmental brain defect and internal organs situated on the wrong side of the body (situs inversus). The severity and range of symptoms is variable....more »
    19. Akesson syndrome
     A very rare syndrome characterized by excessive skin folds and furrows on the scalp, mental retardation the failure of the thyroid to develop....more »
    20. Al Awadi syndrome
     A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis....more »
    21. 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 »
    22. Al Gazali Hirschsprung syndrome
     A rare disorder characterized by Hirschsprung disease (an intestinal disorder), nail abnormalities and facial anomalies....more »
    23. Alcoholism
     Alcoholism is the compulsive urge to drink alcohol despite knowing the negative impact on one's health....more »
    24. Alkaptonuria
     A rare disorder where the abnormal accumulation of a particular acid (homogentisic acid) in the body causes connective tissue and bone damage. This damage gives tissues a dark or bluish discoloration....more »
    25. Allain Babin Demarquez syndrome
     A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension....more »
    26. Allanson-Pantzar-McLeod syndrome
     A rare genetic disorder where abnormal development of kidney tubules results in severe kidney problems that start during the fetal stage....more »
    27. Amphetamine abuse
     Use of the stimulant drugs known as amphetamines or "speed"...more »
    28. Amyoplasia
     A rare condition characterized by congenital joint stiffness....more »
    29. Anencephaly
     A birth defect where most or all of the brain is missing - most die before birth. Usually the associated portions of skull and other tissue are also missing....more »
    30. Anencephaly and spina bifida X-linked
     A severe X-linked malformation syndrome involving anencephaly where a part or all of the brain and associated skull is missing as well as a defect or opening in the spinal column....more »
    31. Angiokeratoma -- mental retardation -- coarse face
     A rare inherited genetic syndrome characterized by mental retardation, coarse facial features and capillary hemangiomas....more »
    32. Ankle Arthritis
     Inflammation of the ankle joint. The inflammation can be the result of such things as degenerative joint disease, gout, infection, trauma and autoimmune conditions....more »
    33. Ankle Osteoarthritis
     A form of arthritis where the cartilage which cushions the bones in the ankle joint as they move against each other, becomes progressively degraded and damaged. This causes problems such as pain, stiffness and impaired movement. Pain is not present in all...more »
    34. Ankle sprain
     Damage to the ankle ligaments....more »
    35. Ankylosing spondylarthritis
     Inflammation of one or more spine joints. The spine becomes progressively painful and stiff and the spine joints may eventually fuse and cause disability. The condition may vary from mild to severe. Inflammation can affect other joints and tissues....more »
    36. Ankylosis
     Fusion of bones in a joint...more »
    37. Ankylosis -- facial anomalies -- pulmonary hypoplasia syndrome
     A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs....more »
    38. Anophthalmia -- hypyothalamo-pituitary insufficiency
     A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland....more »
    39. 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 »
    40. Anorectal atresia
     Congenital malformation where the anal or rectal opening is obstructed. The malformation is often associated with other abnormalities....more »
    41. Antiphospholipid syndrome
     An autoimmune disorder characterized by blood clots and pregnancy losses....more »
    42. Aorto-ventricular tunnel
     A rare heart defect where a tunnel from between the ascending aorta and the cavity of the left or sometimes right heart ventricle. The severity of the condition is highly variable from asymptomatic for many years to fetal death. Often other heart anomalie...more »
    43. Arthritis -- short stature -- deafness
     A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities....more »
    44. Arthritis-like conditions
     Medical conditions highly related to or similar to arthritis....more »
    45. Arthrogryposis -- hyperkeratosis, lethal form
    46. Arthrogryposis -- ophthalmoplegia -- retinopathy
     A very rare syndrome characterized by congenital contractures of the hands and feet as well as eye problems....more »
    47. Arthrogryposis -- renal dysfunction -- cholestasis syndrome
     A very rare syndrome characterized by joint contractures, kidney dysfunction and liver problems....more »
    48. Arthrogryposis IUGR thoracic dystrophy
     A very rare syndrome characterized by congenital joint contractures, intrauterine growth retardation (IUGR) and ribcage abnormalities....more »
    49. Arthrogryposis due to muscular dystrophy
     A rare disorder where a non-progressive muscle disease results in the presence of multiple joint contractures at birth....more »
    50. 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 »
    51. Arthrogryposis multiplex congenita neurogenic type
     A rare non-progressive syndrome characterized by congenital contractures that originates from a nerve problem (spinal motor neuron depletion)....more »
    52. Arthrogryposis multiplex congenita type 2B
     A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities....more »
    53. 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 »
    54. Arthrogryposis, congenital -- myopathic seizures
     A rare syndrome characterized by mental retardation and muscle problems....more »
    55. 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 »
    56. Arthrogryposis, distal, type 2B
     A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities....more »
    57. Arthropathy, progressive pseudorheumatoid, of childhood
     A form of progressive rheumatoid arthritis that affects children....more »
    58. Astley-Kendall syndrome
     A very rare syndrome involving abnormal skeletal development and resulting in short limbs, fragile bones and cartilage abnormalities. The condition generally results in stillbirth or death during early infancy....more »
    59. Atelosteogenesis, type 2
     A very rare inherited skeletal disorder involving the bone and cartilage and resulting in various bone abnormalities....more »
    60. Autoimmune diseases
     A group of disorders in which the primary cause is the an inflammatory reaction caused by the body's own immune system attacking tissues...more »
    61. Avascular necrosis
     Bone death from lack of circulation....more »
    62. Bamforth syndrome
     A rare syndrome characterized mainly by the association of an abnormal opening in the roof of the mouth and reduced thyroid functioning....more »
    63. Baraitser burn fixen syndrome
     A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face....more »
    64. Barmah Forest virus
     Mosquito-borne virus in parts of Australia...more »
    65. Behcet's Disease
     Recurring inflammation of small blood vessels affecting various areas....more »
    66. Bentham-Driessen-Hanveld syndrome
     A rare syndrome characterized mainly by the association of undescended testes, long thin fingers and mental retardation....more »
    67. Besnier-Boeck-Schaumann disease
     A rare disease where inflammatory granular nodules form in various organs....more »
    68. Bethlem myopathy
     A rare, slow-progressing, genetic muscle disorder where the muscle gradually weaken and become wasted....more »
    69. Blepharophimosis -- nasal groove -- growth delay
     A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove....more »
    70. Blepharophimosis -- nasal groove -- growth retardation
     A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove....more »
    71. Blomstrand syndrome
     A rare lethal congenital condition characterized by abnormal bone development....more »
    72. Bone dysplasia, lethal, Holmgren type
     A rare lethal bone malformation syndrome....more »
    73. Borreliosis
     An infectious bacterial disorder that is transmitted by ticks and causes skin rashes joint swelling and other symptoms similar to the flu....more »
    74. Brachydactyly -- tibial hypoplasia
     A rare syndrome characterized by short digits and an underdeveloped or absent shin bone....more »
    75. 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 »
    76. Bursitis
     Inflammation of one or more bursae (small sacs) of synovial fluid in the body....more »
    77. Calcitriol -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Calcitriol 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 »
    78. 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 »
    79. Cancer
     Abnormal overgrowth of body cells....more »
    80. Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency
     A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called cytochrome C oxidase (COX) which is needed in the process of energy production by body cells. The fatal infant type generally affects the hear, brain and kidne...more »
    81. Cataract and cardiomyopathy
     A rare syndrome characterized by the association of congenital cataracts, heart muscle disease, lactic acidosis and skeletal muscle disease. The disorder involves the abnormal storage of lipids and glycogen in the skeletal and heart muscles. The cataracts...more »
    82. Celiac Disease
     Digestive intolerance to gluten in the diet....more »
    83. Childbirth
     Delivery of a fetus by a pregnant woman....more »
    84. Chondrocalcinosis
     A rare inherited metabolic disorder where the chemical calcium pyrophosphate dihyrdate is deposited in one or more joints in the body - usually the knee is affected....more »
    85. Chondrocalcinosis 1
     A very rare genetic disorder characterized by progressive osteoarthritis which starts relatively early and is progressive. Joint damage is caused by deposits of crystals containing calcium....more »
    86. Chondrocalcinosis 2
     A very rare genetic disorder characterized by progressive osteoarthritis. Joint damage is caused by deposits of crystals containing calcium....more »
    87. Chondrodysplasia punctata lethal neonatal
     A rare skeletal disorder which results in the infant's death before or soon after birth. Symptoms include a variety of severe skeletal abnormalities and an enlarged head....more »
    88. Chondrodysplasia punctata, brachytelephalangic
     A rare disorder characterized by abnormal bone development involving stippled (speckled) calcification of growing ends of long bones. The main features of this disorder are retarded growth, facial anomalies and short end bones in fingers....more »
    89. Chondrodysplasia, Grebe type
     A rare genetic disorder characterized by dwarfism and various limb deformities....more »
    90. Chondrodystrophia calcificans congenita
     A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....more »
    91. Chondrodystrophia punctata, autosomal dominant
     A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....more »
    92. Christian's syndrome 1
     A rare recessively inherited syndrome characterized by premature skull fusion, cleft palate, permanently flexed fingers and various other anomalies....more »
    93. Chromosome 1, Partial Trisomy
     A rare genetic disorder where part of the genetic material from chromosome 1 is duplicated so there are three copies in the body's cells rather than the normal two copies. The type and severity of symptoms is variable depending on the size and location of...more »
    94. 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 »
    95. 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 »
    96. Chromosome 1, monosomy 1q4
     A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as facial dysmorphism, retarded fetal growth, seizures, mental retardation, testicular problems and kidney defects....more »
    97. Chromosome 1, pter-p36
     A very rare chromosomal disorder where the end portion of the short arm of chromosome 1 is missing. The type and severity of symptoms is variable....more »
    98. 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 »
    99. 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 »
    100. Chromosome 11, Partial Trisomy 11q
     A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severit...more »
    101. 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 »
    102. 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 »
    103. Chromosome 16, uniparental disomy
     A rare chromosomal disorder where an extra copy of chromosome 16 is inherited from one parent only....more »
    104. Chromosome 20, trisomy
     A rare chromosomal disorder where there are three copies of chromosome 20 rather than the normal two which results in severe abnormalities and death....more »
    105. 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 »
    106. Chromosome 21, monosomy 21q22
     A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted....more »
    107. 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 »
    108. 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 »
    109. Chromosome 3, monosomy 3p25
     A rare chromosomal disorder characterized by mental retardation, short stature, deafness, extra digits, facial anomalies and various other abnormalities....more »
    110. Chromosome 3, monosomy 3q13
     A rare chromosomal disorder characterized by a range of abnormalities including facial anomalies, kidney dysfunction, large head, small penis and impaired joint mobility....more »
    111. 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 »
    112. 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 »
    113. 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 »
    114. Chromosome 7, terminal 7p deletion
     A rare chromosomal disorder where there is one copy of the end 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 deleted....more »
    115. 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 »
    116. 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 »
    117. 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 »
    118. 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 »
    119. 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 »
    120. 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 »
    121. Chromosome 9q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities....more »
    122. Chronic liver disease
     Any form of chronic liver disease...more »
    123. Cocaine fetopathy
     Cocaine use during pregnancy resulting in various birth defects and other abnormalities....more »
    124. Colavita-Kozlowski syndrome
     A very rare syndrome characterized by dwarfism and resulting in death at birth or in the weeks following birth....more »
    125. Congenital Muscular Dystrophy
     Muscle weakness and wasting that starts at birth or around the time of birth. The severity and extent of muscle involvement is greatly variable....more »
    126. Congenital Toxoplasmosis
     Fetal infection with toxoplasmosis....more »
    127. Connective tissue disorders
     Any condition affecting connective tissues....more »
    128. Connective tissue dysplasia, Spellacy type
     A very rare syndrome caused by an inherited collagen disorder and characterized by skin abnormalities, skeletal and eye anomalies and joint problems....more »
    129. Conradi-Huenermann Syndrome
     A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....more »
    130. Conradi-Hunermann syndrome
     A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....more »
    131. Cranio osteoarthropathy
     A very rare syndrome characterized by large fontanelles, joint problems and finger clubbing....more »
    132. Craniomicromelic syndrome
     A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth....more »
    133. Craniosynostosis -- fibular aplasia
     A very rare disorder characterized primarily by the premature fusion of skull bones as well missing or underdeveloped fibula (lower leg bone behind shin bone)....more »
    134. Craniosynostosis cleft lip palate arthrogryposis
     A rare condition characterized mainly by the association of premature fusion of skull bones (craniosynostosis), cleft lip and/or palate and arthrogryposis....more »
    135. Crohn's disease
     Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory bowel disease. The disease can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ...more »
    136. Cutis verticis gyrata mental deficiency
     A rare inherited disorder characterized by mental retardation, seizures and eye and movement problems....more »
    137. 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 »
    138. Cystic adenomatoid malformation of lung
     A rare birth condition where the lungs fail to develop normally during the fetal stage and cysts form in parts of the lung instead of normal alveolar tissue....more »
    139. Cystic hygroma, lethal -- cleft palate
     A very rare lethal syndrome characterized mainly by cysts that form in the lymphatic system as well as an opening in the palate (cleft palate)....more »
    140. Czeizel syndrome
     A rare lethal syndrome characterized by cleft palate, uterus abnormalities and omphalocele (protrusion of abdominal organs such as intestine through the navel)....more »
    141. Davenport-Donlan syndrome
     A very rare syndrome characterized mainly by deafness, white hair, contractures and papillomas....more »
    142. Del (4) (pter-p16.2) and dup (2) (q37.1-qter)
     A rare syndrome characterized by the main features of Wolf syndrome which include profound mental retaradation and oral clefting. Patients tend to die soon after birth....more »
    143. 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 »
    144. Dermatomyositis
     A muscle disease characterized by chronic muscle inflammation resulting in progressive muscle weakness and a characteristic rash....more »
    145. Desbuquois dysplasia-like syndrome
     A rare syndrome characterized by various anomalies similar to Desbuquois syndrome but there is no mental retardation, hand abnormalities or facial anomalies involved....more »
    146. Diabetes
     Failing or reduced ability of the body to handle sugars....more »
    147. Dialysis-related amyloidosis
     Amyloidosis (protein deposits) from kidney dialysis treatment....more »
    148. Diarrhea 2, with Microvillous Atrophy
     A rare congenital condition characterized by diarrhea resulting form a defect in small intestine....more »
    149. Diethylstilbestrol -- Teratogenic Agent
     There is evidence to indicate that exposure to Diethylstilbestrol (a nonsteroidal estrogen) 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...more »
    150. Diethylstilbestrol antenatal infection
     A very rare syndrome characterized mainly caused by exposure to diethylstilbestrol (used to prevent complications during pregnancy such as miscarriage and prematurity) during pregnancy...more »
    151. Diffuse neonatal hemangiomatosis
     A very rare syndrome characterized mainly by multiple capillary hemangiomas as well as other abnormalities....more »
    152. 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 »
    153. Diltiazem -- Teratogenic Agent
     There is evidence to indicate that exposure to Diltiazem 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 »
    154. Diphallus -- rachischisis -- imperforate anus
     A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae....more »
    155. Dislocation
     Bone dislocated from a joint...more »
    156. Dup (1) (q23-qter) and del (3)(pter-p25)
     A very rare chromosomal disorder where a portion of the long arm (q23-qter) of chromosome one and the short arm of chromosome 3 (pter- p25) is duplicated. In the reported case, the infant died soon after birth....more »
    157. 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 »
    158. 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 »
    159. Dwarfism -- stiff joint -- ocular abnormalities
     A very rare form of dwarfism characterized by short stature as well as stiff joints and eye abnormalities....more »
    160. Dyggve-Melchior-Clausen Syndrome
     A rare genetic bone growth disorder characterized by short stature and other skeletal deformities....more »
    161. Dysgnathia complex
     A very rare disorder characterized by a small or absent jaw, ear abnormalities and a small mouth and tongue. The severity and range of symptoms is variable....more »
    162. Dysostosis
     Defective bone development. It can result in missing bones, extra bone, shortened bones or other bone abnormalities. Further symptoms depend on the type of abnormality....more »
    163. Dysplastic cortical hyperostosis
     A very rare syndrome characterized mainly by abnormal bone and brain development....more »
    164. Ecstasy abuse
     Use of the illicit drug called ecstasy...more »
    165. Ectopia lentis, isolated
     A rare syndrome characterized by dislocation of eye lenses which often occurred at birth....more »
    166. Eczema
     Eczema is a chronic skin condition characterized by skin inflammation and irritation. The severity of extent of the condition is highly variable. It may be caused by allergies, irritants or other factors such as stress....more »
    167. Elbow Arthritis
     Inflammation of the elbow joint. The inflammation can be the result of such things as degenerative joint disease, gout, infection, trauma and autoimmune conditions....more »
    168. Elbow Osteoarthritis
     A form of arthritis where the cartilage which cushions the bones in the elbow joint as they move against each other, becomes progressively degraded and damaged. This causes problems such as pain, stiffness and impaired movement. Pain is not present in all...more »
    169. Elliptocytosis 1
     An inherited blood disorder where a significant number of red blood cells (erythrocytes) are elliptical or oval shaped rather than doughnut shaped. Anemia results when the abnormal red blood cells are destroyed. The severity of the anemia is variable with...more »
    170. Ellis-Yale-Winter syndrome
     A rare condition characterized by the association of a small head, congenital heart disease, lung segmentation defects and a missing kidney....more »
    171. Emerinopathy
     A rare, progressive muscle disease that starts during childhood and involves muscle weakness and wasting....more »
    172. Endometriosis
     Misplaced uterus tissue causing scar tissue....more »
    173. 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 »
    174. Epiphyseal dysplasia, multiple, 3
     Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. The knees and ankles are usually the most affected joints. Mild weakness of muscles in the upper arms and legs was also sometimes present. It is ...more »
    175. Epiphyseal dysplasia, multiple, 5
     Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. The hips and knees were the main joints involved. It is caused by defects in the gene for matrilin-3 (MATN3)....more »
    176. Epiphyseal stippling syndrome -- osteoclastic hyperplasia
     A rare syndrome characterized by abnormal bone development primarily affecting the long bones and lower spine....more »
    177. Exencephaly
     A rare, fatal birth defect where parts of the skull bones are missing causing the brain to protrude....more »
    178. Eye defects -- arachnodactyly -- cardiopathy
     A rare syndrome characterized mainly by eye defects, long, thin fingers and heart disease....more »
    179. Facial dysmorphism -- intellectual deficit -- short stature -- hearing loss
     A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features....more »
    180. Facies unusual arthrogryposis advanced skeletal malformations
     A very rare fatal malformation characterized by an unusual facial appearance, arthrogryposis, advanced bone age of the hips and abnormal X-rays of the skeleton....more »
    181. Faciocardiorenal syndrome
     A rare syndrome characterized by a variety of abnormalities such as kidney anomaly, mental retardation, unusual facial features, heart problems and joint problems. Infant death or stillbirth may occur in some cases....more »
    182. Familial Cold Autoinflammatory Syndrome (FCAS)
     An inherited inflammatory disorder which causes periods of fever, rash and pain in joints after being exposed to cold conditions. Symptoms last less than a day and start within hours of exposure to the cold....more »
    183. Familial hypopituitarism
     Impaired pituitary gland hormone-producing activity that tends to run in families. The failure of the pituitary gland in turn affects other hormone-producing glands which rely on the hormones from the pituitary gland for their activity. Symptoms are deter...more »
    184. Familial intestinal polyatresia syndrome
     A rare birth malformation where the intestines are closed off or absent....more »
    185. Felty Syndrome
     A rare complication of long-term rheumatoid arthritis which involves an enlarged spleen and blood abnormalities....more »
    186. Female pseudohermaphrodism -- anorectal anomalies
     A very rare disorder characterized by ambiguous external genitals and anal and rectal anomalies....more »
    187. Female reproductive toxicity -- Polychlorinated biphenyls (PCBs)
     There is limited conflicting evidence which indicates that some women exposed to Polychlorinated biphenyls may suffer adverse effects as a result. Low birth weight, hyperpigmentation and menstrual disorders are possible adverse effects and are generally o...more »
    188. Fetal akinesia syndrome, X-linked
     A rare syndrome where the fetus is unable to move or has reduced mobility due to brain defects....more »
    189. Fetal death
     The death of a fetus...more »
    190. Fetal indomethacin syndrome
     Fetal exposure to indomethacin which is a nonsteroidal anti-inflammatory drug. The drug can pass through the placenta from the mother to the baby and cause various problems depending on what stage of development the fetus is at....more »
    191. Fetal left ventricular aneurysm
     A rare disorder where the fetus has a dilated ventricle on the left side of the heart. Severity of the defect is variable with some cases being asymptomatic and in other heart failure occurs during the fetal stage....more »
    192. Finger Arthritis
     Inflammation of the finger joint. The inflammation can be the result of such things as degenerative joint disease, gout, infection, trauma and autoimmune conditions....more »
    193. Finger osteoarthritis
     A form of arthritis where the cartilage which cushions the bones in the finger joints as they move against each other, becomes progressively degraded and damaged. This causes problems such as pain, stiffness and impaired movement. Pain is not present in a...more »
    194. Finnish lethal neonatal metabolic syndrome
     A very rare lethal metabolic disorder characterized by a deficiency of complex III which causes brain, kidney and liver problems and ultimately results in early death....more »
    195. Flynn-Aird syndrome
     A rare inherited disorder where neurological degeneration causes symptoms such as dementia, ataxia, eye problems, skin disorders and muscle wasting....more »
    196. Fraser Syndrome
     A rare disorder characterized by the absence of one or both eyes as well as any of a number of other possible congenital abnormalities. Up to half of cases are stillborn....more »
    197. Fraser-like syndrome
     A very rare syndrome characterized by fused eyelids, airway anomalies, cysts in the ovaries and finger and toe abnormalities....more »
    198. Fried-Goldberg-Mundel syndrome
     A rare syndrome characterized mainly by leg malformations and an abnormally positioned urethral opening (hypospadias) in males....more »
    199. Frontometaphyseal dysplasia
     A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles....more »
    200. Frontonasal dysplasia -- phocomelic upper limbs
     A very rare syndrome characterized mainly by short arms, facial anomalies and various other abnormalities....more »
    201. GEMSS syndrome
     A rare syndrome characterized mainly by stiff joints, short stature, glaucoma and a dislocated eye lens....more »
    202. GM1 gangliosidosis
     A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the...more »
    203. Gangliosidosis generalized GM1, type 1
     A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the...more »
    204. Gaucher disease -- perinatal lethal form
     A rare syndrome characterized by the association of abnormally tight skin and Gaucher disease which is a lipid storage disease. This is the most severe form of Gaucher disease....more »
    205. Gay-Feinmesser-Cohen syndrome
     A very rare syndrome characterized mainly by short stature, congenital heart disease and an abnormal membrane of tissue across the larynx....more »
    206. Geleophysic dwarfism
     A rare genetic disorder characterized by a happy facial expression, short stature and limb abnormalities....more »
    207. Generalized pustular psoriasis of pregnancy
     A form of psoriasis that occurs during the third trimester of pregnancy and is characterized by pustules rather the skin bumps. The skin under and around the pustules is red and variable areas of skin may be involved. The pustules tends to occur in locali...more »
    208. Gonorrhea
     Common sexually transmitted disease often without symptoms....more »
    209. Gout
     Painful joints, most commonly the big toe....more »
    210. Graves Disease
     is an autoimmune disease characterized by hyperthyroidism due to circulating autoantibodies. Thyroid-stimulating immunoglobulins (TSIs) bind to and activate thyrotropin receptors, causing the thyroid gland to grow and the thyroid follicles to increase syn...more »
    211. Greenberg dysplasia
     A very rare form of short-limbed dwarfism....more »
    212. HIV/AIDS
     HIV is a sexually transmitted virus and AIDS is the progressive immune failure that HIV causes....more »
    213. Heart defects -- limb shortening
     A very rare syndrome characterized mainly by short limbs and heart defects....more »
    214. Hemochromatosis
     Excess of iron leading to problems with joints, liver, heart and pancreas....more »
    215. Hemolytic anemia, lethal -- genital anomalies
     A very rare syndrome characterized mainly by genital abnormalities and hemolytic anemia which often causes death....more »
    216. Hemophilic arthropathy
     Joint destruction associated with hemophilia. The knees, ankles, elbows, hip and shoulders are the most common joints involved. Symptoms are progressive and often surgical intervention is required to prevent total loss of joint function....more »
    217. 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 »
    218. Herpes
     Virus with one subtype causing cold sores and another causing genital herpes....more »
    219. Herrmann Opitz arthrogryposis syndrome
     A very rare syndrome characterized mainly by contractures, skeletal abnormalities and short stature....more »
    220. Herrmann-Opitz craniosynostosi
     A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and an unusual facial appearance....more »
    221. Hip Arthritis
     Inflammation of the hip joint. The inflammation can be the result of such things as degenerative joint disease, gout, infection, trauma and autoimmune conditions....more »
    222. Hip osteoarthritis
     A form of arthritis where the cartilage which cushions the bones in the hip joint as they move against each other, becomes progressively degraded and damaged. This causes problems such as pain, stiffness and impaired movement. Pain is not present in all c...more »
    223. Hives
     Weals on the skin due to an allergic reaction....more »
    224. Holoprosencephaly -- caudal dysgenesis
     A very rare syndrome where the tailbone and the portion above the tailbone (coccyx and sacrum) fail to develop. The brain also fails to divide into two lobes resulting in a single-lobed brain...more »
    225. 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 »
    226. Holoprosencephaly deletion 2p
     A very rare syndrome characterized mainly by the failure of the brain to separate into two lobes, facial deformities and various other anomalies....more »
    227. Homocystinuria
     A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body....more »
    228. 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 »
    229. Homocystinuria due to defect in methylation cbl e
     An inherited organic acid disorder where an enzyme deficiency (methionine synthase reductase) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in ...more »
    230. Human parvovirus B19 infection -- fetal
     Fetal infection with human parvovirus B19....more »
    231. 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 »
    232. Hurler syndrome
    233. Hurst-Hallam-Hockey syndrome
     A group of malformation described in a stillborn infant. Defects include leptomeningeal angiomatosis (abnormal blood vessels in sheath surrounding brain and spinal cord), heart disease, cleft lip and palate and brain abnormalities....more »
    234. Hutchinson Gilford Syndrome
     A rare genetic disorder characterized by alopecia and senile-like appearance....more »
    235. Hydrocephaly corpus callosum agenesis diaphragmatic hernia
     A very rare syndrome characterized mainly by a buildup of fluid inside the skull, abnormal brain development (corpus callosum) and a diaphragmatic hernia....more »
    236. Hydrops fetalis syndrome due to Beta-thalassemia
     Abnormal accumulation of fluid in the fetus which can be fatal. The condition is caused by a blood abnormality (absence of Beta-globulin genes - Beta-thalassemia)....more »
    237. Hyperthermia induced defects
     A rare disorder where hypothermia during pregnancy results in infant abnormalities involving growth, development and brain dysfunction....more »
    238. Hypomandibular faciocranial dysostosis
     A very rare syndrome characterized mainly by very underdeveloped upper and lower jaw as well as a very small, absent or small tongue....more »
    239. 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 »
    240. 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 »
    241. Impossible syndrome
     A very rare syndrome (only one reported case) characterized a range of severe malformations, premature birth and stillbirth....more »
    242. Injury
     Any damage inflicted in the body...more »
    243. Intrauterine infections
     Infection of the fetus while still inside the womb. The type and severity of symptoms is determined by the type of infection and at what stage of pregnancy it occurs. Some cases are mild enough to be asymptomatic and others are severe enough to cause a mi...more »
    244. Isotretinoin -- Teratogenic Agent
     There is evidence to indicate that exposure to Isotretinoin (an acne treatment 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 »
    245. Ives-Houston syndrome
     A rare inherited syndrome characterized by retarded fetal growth, small head, malformed limbs and death before or soon after birth....more »
    246. 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 »
    247. Jaffe-Lichtenstein-Sutro syndrome
     A rare disorder characterized by pain and limited movement in one or more large joints such as the knee....more »
    248. Jequier-Kozlowski-skeletal dysplasia
     A very rare syndrome characterized mainly by various skeletal abnormalities and facial anomalies....more »
    249. Johnson-Hall-Krous syndrome
     A rare congenital disorder characterized by cataracts, cleft palate, high nose bridge, extra finger and tongue abnormalities....more »
    250. Joint injury
     An injury to any joint in the body. The larger limb joints tend to be the most utilized and are hence more prone to injuries. Severity of symptoms varies depending on the type and location of injury and often the primary symptom is pain. A joint injury ca...more »
    251. Jorgenson-Lenz syndrome
     A very rare syndrome characterized mainly by joint problems, mental retardation and various eye and other anomalies....more »
    252. Juvenile Scleroderma
     Scleroderma that occurs in children. Scleroderma is a connective tissue disease that can affect the skin, blood vessels, the immune system and sometimes even the organs may be involved. The disorder may be localized or affect large areas of the body....more »
    253. Juvenile idiopathic arthritis
     A group of chronic inflammatory joint disorders that affects children. The condition generally involves periods of time where the condition is active followed by periods of abatement of symptoms. In some cases, the condition can be systemic and can cause ...more »
    254. Juvenile idiopathic arthritis, unclassified
     A chronic inflammatory joint condition affecting children. This particular subtype is defined as unclassified as it doesn't fit into any of the other classifications....more »
    255. Kaplan-Plauchu-Fitch syndrome
     A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities....more »
    256. Kawasaki disease
     A childhood illness that generally affects the skin, mouth and lymph nodes....more »
    257. Kennerknecht-Sorgo-Oberhoffer syndrome
     A very rare syndrome characterized mainly by absent gonads and an underdeveloped right side of the heart....more »
    258. 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 »
    259. Kleeblattschaedel syndrome
     A very rare syndrome characterized mainly by a head the is somewhat cloverleaf shaped....more »
    260. Knee arthritis
     Inflammation of the knee joint. The inflammation can be the result of such things as degenerative joint disease, gout, infection, trauma and autoimmune conditions....more »
    261. Knee osteoarthritis
     A form of arthritis where the cartilage which cushions the bones in the knee joint as they move against each other, becomes progressively degraded and damaged. This causes problems such as pain, stiffness and impaired movement. Pain is not present in all ...more »
    262. Kniest dysplasia
     A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities....more »
    263. Kniest-like dysplasia lethal
     A lethal syndrome characterized primarily by severe skeletal abnormalities....more »
    264. Kosztolanyi syndrome
     A very rare syndrome characterized mainly by severely retarded development, long thin fingers, mental retardation and skull and facial abnormalities....more »
    265. Koussef nichols syndrome
     A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities....more »
    266. Kousseff-Nichols syndrome
     A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities....more »
    267. Kuskokwim disease
     A rare syndrome where abnormal muscle attachment causes abnormalities such as muscle wasting or excessive growth and contractures....more »
    268. Kwashiorkor
     A malnutrition state that is produced by severe protein deficiency...more »
    269. Larsen-like syndrome, lethal form
     A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities. The condition is a manifestation of abnormal collagen formation....more »
    270. Larsen-like syndrome, lethal type
     A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities....more »
    271. Lateral body wall complex
     A very rare syndrome characterized involving the absence of the whole or part of an arm or leg as well as a severe defect of the abdominal wall. Death often occurs at birth....more »
    272. Lead poisoning
     A type of heavy metal poisoning caused by excessive exposure to lead....more »
    273. Leprosy
     A chronic, progressive infectious disease caused by Mycobacterium leprae which causes skin sores and also affects the eyes, mucous membranes and peripheral nerves....more »
    274. Lethal arthrogryposis with anterior horn cell disease
     A lethal genetic disorder involving multiple contractures and facial abnormalities....more »
    275. Lethal arthrogryposis with anterior horn cell disease (LAAHD)
     A lethal disorder characterized by arthrogryposis and loss of anterior horn motor neurons which results in a lack of fetal movement....more »
    276. Lethal chondrodysplasia, Moerman type
     A very rare lethal syndrome characterized mainly by abnormal bone development....more »
    277. Lethal chondrodysplasia, Seller type
     A very rare lethal syndrome characterized mainly by angulated long bones and variation in bone density throughout the body....more »
    278. Lethal congenital contracture syndrome (LCCS)
     A rare inherited lethal disorder characterized by multiple congenital contractures. There are two main types caused by different genetic defects. Type 2 differs from type 1 in that it includes additional head, face and eye symptoms and hydrops, joint webb...more »
    279. Lethal congenital contracture syndrome 1
     A rare inherited lethal disorder characterized by multiple congenital contractures. Type 1 occurs as a result of a genetic defect on chromosome 9q34....more »
    280. 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 »
    281. Lissencephaly type III -- metacarpal bone dysplasia
     A rare syndrome characterized by an abnormally smooth brain as well as abnormal bone development in the hands....more »
    282. Listeriosis
     Bacterial food poisoning...more »
    283. Listeriosis -- granulomatous infantiseptica
     Listeria monocytogenes infection that is transmitted from a pregnant woman to the fetus....more »
    284. Liver cancer
     Hepatocellular carcinoma (HCC) is a primary malignancy of the liver....more »
    285. Lobstein disease
     A group of rare inherited diseases that involves fragile bones. There are many different types based on the severity and extent of symptoms. Some types are severe enough to cause stillbirth or infant death whereas other types may cause few if any problema...more »
    286. Lower limb anomaly -- ureteral obstruction
     A very rare syndrome characterized mainly by an obstructed ureter and a leg anomaly....more »
    287. Lumbar malsegmentation -- short stature
     A very rare syndrome characterized mainly by short stature and abnormal segmentation of the vertebrae in the abdominal segment of the spine....more »
    288. Lupus
     Autoimmune disease with numerous effects on various organs and linings....more »
    289. Lurie-Kletsky syndrome
     A very rare syndrome characterized mainly by a buildup of fluid inside the skull, abnormal brain development (corpus callosum) and a diaphragmatic hernia....more »
    290. Lymphangiomatosis, pulmonary
     A rare disorder characterized by the presence of numerous small lung cysts at birth which severely affects breathing and blood pressure and generally results in infant death....more »
    291. Lymphoma
     Cancer involving lymph nodes and the immune system....more »
    292. Lymphomatous thyroiditis
     Progressive thyroid gland enlargement due to autoimmune disease....more »
    293. 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 »
    294. Malformations in neuronal migration
     A rare disorder where the brain fails to develop normally - usually the cerebral cortex is involved. Various parts of the brain can be affected to various degrees depending on what stage of development the defect occurs. Mental retardation is one of the m...more »
    295. Mandibuloacral dysplasia
     A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. There are two subtypes with type B involving loss of fat layers under the skin mainly in the extremities, face and trunk whereas type A involves mainly the ...more »
    296. Mandibuloacral dysplasia with type A lipodystrophy
     A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. Loss of fat layers under the skin occurs mainly in the extremities in type B. The severity of the symptoms is variable....more »
    297. Maroteaux-Stanescu-Cousin syndrome
     A very rare lethal syndrome characterized mainly by abnormal bone development....more »
    298. Matsoukas syndrome
     An extremely rare condition characterized by mental retardation, eye problems, facial anomalies and joint problems....more »
    299. Measles
     Once common viral infection now rare due to vaccination....more »
    300. 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 »
    301. 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 »
    302. 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 »
    303. Mefloquine -- Teratogenic Agent
     There is evidence to indicate that exposure to Mefenamic 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 level of expo...more »
    304. Megaduodenum and/or megacystis
     A rare familial condition where muscle disease affects muscles along the gastrointestinal tract and urinary tract. The inability of these muscles to function normally affects the flow of substances through the intestines and the urinary system which can r...more »
    305. Mental mixed retardation -- deafness -- clubbed digits
     A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers....more »
    306. Mental mixed retardation deafnes clubbed digits
     A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers....more »
    307. Mental retardation -- arachnodactyly -- hypotonia -- telangiectasia
     A very rare syndrome characterized mainly by mental retardation, short fingers, reduced muscle tone and spider veins (telangiectasia)....more »
    308. Mental retardation -- myopathy -- short stature -- endocrine defect
     A very rare syndrome characterized mainly by mental retardation, muscle disease, short stature and endocrine defects....more »
    309. Mental retardation -- short stature -- deafness -- genital
     A very rare syndrome characterized mainly by mental retardation, short stature, deafness and genital abnormalities....more »
    310. 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 »
    311. 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 »
    312. Mercury poisoning
     A type of heavy metal poisoning caused by excessive exposure to mercury....more »
    313. Metaphyseal chondrodysplasia, recessive type
     A recessively inherited skeletal disorder characterized by abnormal development of the bone metaphyses which results in short stature from birth....more »
    314. 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 »
    315. Microlissencephaly -- micromelia
     A rare syndrome characterized mainly by short arms, a brain defect called microlissencephaly, small head and early death....more »
    316. Microphthalmia syndromic, type 9
     A rare inherited disorder characterized by small or absent eyes and lung, heart and diaphragmatic abnormalities. The disorder is caused by a defect on the STRA6 gene....more »
    317. Midline field defects
     Congenital problems that occur along the vertical axis of the body. Defects can involve the brain, spine, heart, genitals and midline of the head and face....more »
    318. 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 »
    319. 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 »
    320. Mononucleosis
     Common infectious virus....more »
    321. Monosomy 8q21 q22
     A very rare chromosomal disorder where a portion of chromosome 8q is missing resulting in various abnormalities....more »
    322. Morse-Rawnsley-Sargent syndrome
     A very rare syndrome characterized mainly by abnormal brain development and reduced fetal movement....more »
    323. Mosse syndrome
     A condition involving the association of liver cirrhosis with polycythemia which is a chronic myeloproliferative disorder characterized by the excessive production of mainly red blood cells by the bone marrow....more »
    324. Mucolipidosis III
     A rare metabolic disorder where deficiency of a particular enzyme leads to the buildup of mucopolysaccharides and mucolipids in the body which is harmful to the body and leads to premature death....more »
    325. Mucolipidosis type 3 A
     A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (glycoproteins and glycolipids) in body tissues due to deficiency of an enzyme (UDP-N-acetylglucosamine-I-phosphotransferase) needed to process it....more »
    326. Mucopolysaccharidosis II
     Disorder of mucopolysaccharide metabolism in juveniles....more »
    327. Mucopolysaccharidosis type 2 Hunter syndrome- severe form
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (iduronidate 2-sulfatase) needed to break it down....more »
    328. Mucopolysaccharidosis type 6
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (Arylsulfatase ?) needed to break it down....more »
    329. Mucopolysaccharidosis type I Hurler syndrome
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down. There are three main sub-types...more »
    330. Mucopolysaccharidosis type I Hurler-Scheie syndrome
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down....more »
    331. Mucopolysaccharidosis type I Scheie syndrome
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-iduronidase) needed to break it down....more »
    332. Mullerian derivatives -- lymphangiectasia -- polydactyly
     A rare syndrome characterized by extra fingers, Mullerian duct remnants and lymphangiectasia....more »
    333. Multicystic Renal Dysplasia
     A congenital kidney defect where the renal cortex has multiple abnormally cysts which can be of varying sized. One or both kidneys may be affected to varying degrees which results in variable severity of symptoms. Often there are other associated kidney d...more »
    334. Multicystic renal dysplasia, bilateral
     A rare congenital disorder where multiple cysts develop in the kidneys which affects their ability to function normally. The condition is results in death prior to or within weeks of birth....more »
    335. Multiple Sclerosis
     Autoimmune attack on spinal nerves causing diverse and varying neural problems....more »
    336. Multiple congenital anomalies -- mental retardation -- growth failure and cleft lip/ palate
     A very rare syndrome characterized mainly by mental retardation, growth failure, cleft lip, cleft palate and various other abnormalities....more »
    337. Multiple epiphyseal dysplasia
     A rare genetic disorder characterized by short stature and limb, joint and hip abnormalities which become evident from two to 10 years....more »
    338. Murine typhus
     An infectious condition which is characterized by a similar condition to that of typhus due to Rickettsia typhi....more »
    339. Myhre Syndrome
     A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features....more »
    340. Myhre-Ruvalcaba-Graham syndrome
     A rare disorder characterized by mental retardation, retarded growth before and after birth, early-onset deafness and facial anomalies as well as other problems....more »
    341. 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 »
    342. Nakajo-Nishimura syndrome
     A rare disorder involving muscle degeneration, loss of skin fat and impaired immune functioning....more »
    343. Nathalie syndrome
     A very rare condition described in four children of one family. The condition is characterized by wasting of the spine muscles, abnormal heart electrical activity, cataracts, hypogonadism and hearing impairment....more »
    344. Negative rheumatoid factor polyarthritis
     A form of rheumatoid arthritis which doesn't involves the presence of rheumatoid factor in the blood. More than one joint is involved....more »
    345. Neonatal hepatitis
     A liver inflammation that occurs during the first few months of an infant's life....more »
    346. Nicotine addiction
     Nicotine addiction is the uncontrollable desire to continue smoking. Smoking products contain nicotine which is a chemical that can lead to addiction if used over a period of time. Cessation causes withdrawal symptoms which can vary in nature and severity...more »
    347. Novak syndrome
     A very rare syndrome characterized mainly underdeveloped lungs and by an abnormal opening in the area of the larynx, trachea and esophagus....more »
    348. Oculo cerebro acral syndrome
     A very rare syndrome characterized mainly by eye, brain, ear and limb abnormalities....more »
    349. Oculocerebral hypopigmentation syndrome, type Preus
     A very rare syndrome characterized mainly by eye, brain and pigmentation abnormalities....more »
    350. Oligohydramnios
     A deficiency in the amount of amniotic fluid in the gestational sac during pregnancy...more »
    351. Olmsted syndrome
     A rare congenital condition characterized by progressive thickening and hardening of skin on palms and soles, alopecia and nail abnormalities....more »
    352. 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 »
    353. Osteitis
     Inflammation of the bone....more »
    354. 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 »
    355. Osteoarthritis Susceptibility
     Osteoarthritis refers to degeneration of the joints which causes symptoms such as joint pain and stiffness. Researchers have discovered a number of genes linked to an increased risk of developing osteoarthritis. Genetic forms of osteoarthritis tend to hav...more »
    356. Osteoarthritis Susceptibility 1
     Osteoarthritis refers to degeneration of the joints which causes symptoms such as joint pain and stiffness. Researchers have discovered a number of genes linked to an increased risk of developing osteoarthritis. Genetic forms of osteoarthritis tend to hav...more »
    357. Osteoarthritis Susceptibility 2
     Osteoarthritis refers to degeneration of the joints which causes symptoms such as joint pain and stiffness. Researchers have discovered a number of genes linked to an increased risk of developing osteoarthritis. Genetic forms of osteoarthritis tend to hav...more »
    358. Osteoarthritis Susceptibility 3
     Osteoarthritis refers to degeneration of the joints which causes symptoms such as joint pain and stiffness. Researchers have discovered a number of genes linked to an increased risk of developing osteoarthritis. Genetic forms of osteoarthritis tend to hav...more »
    359. Osteoarthritis Susceptibility 4
     Osteoarthritis refers to degeneration of the joints which causes symptoms such as joint pain and stiffness. Researchers have discovered a number of genes linked to an increased risk of developing osteoarthritis. Genetic forms of osteoarthritis tend to hav...more »
    360. Osteoarthritis Susceptibility 5
     Osteoarthritis refers to degeneration of the joints which causes symptoms such as joint pain and stiffness. Researchers have discovered a number of genes linked to an increased risk of developing osteoarthritis. Genetic forms of osteoarthritis tend to hav...more »
    361. Osteoarthritis Susceptibility 6
     Osteoarthritis refers to degeneration of the joints which causes symptoms such as joint pain and stiffness. Researchers have discovered a number of genes linked to an increased risk of developing osteoarthritis. Genetic forms of osteoarthritis tend to hav...more »
    362. Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa
     A rare syndrome characterized by extreme dwarfism, deafness, progressive scoliosis and retinal pigment anomalies....more »
    363. 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 »
    364. Oto-palato-digital syndrome, type 2
     A rare genetic disorder characterized by head, face, mouth and bone abnormalities....more »
    365. Overgrowth radial ray defect arthrogryposis
     A rare condition characterized mainly by the association of arthrogryposis, excessive growth and arm and hand defects....more »
    366. Palindromic rheumatism
     A rare disorder involving periodic inflammation in and around joints. Eventually, rheumatoid arthritis may develop if the condition persists....more »
    367. 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 »
    368. 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 »
    369. Pallister-Killian Syndrome
     A rare genetic disorder due to tetrasomy of the 12th chromosome...more »
    370. Pancolitis
     Pancolitis is also known as ulcerative colitis which is an idiopathic chronicinflammatory disorder of the colon and rectum and involves the entire thickness of the colon....more »
    371. Pelvic Inflammatory Disease
     Infection of the womb and fallopian tubes....more »
    372. Pelvic dysplasia arthrogryposis of lower limbs
     A very rare syndrome characterized mainly by pelvic anomalies and joint contractures involving the legs....more »
    373. 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 »
    374. Peptidic growth factors deficiency
     A very rare syndrome characterized mainly by diabetes, skin abnormalities, small jaw and muscle contractures....more »
    375. Perinatal hypophosphatasia
     An inherited bone disorder due to an inborn error of metabolism characterized by a severe deficiency of alkaline phosphate which results in death before or within days of birth....more »
    376. Perinatal-lethal Gaucher disease
     A disorder caused by a deficiency of an enzyme called glucocerebrosidase. The foetal form is one of several forms of Gaucher disease and is the rarest. The fetal form causes death before birth or soon after....more »
    377. Perisylvian syndrome
     A very rare nerve disorder characterized by weakness or paralysis of face, jaw tongue and throat muscles. Other symptoms include seizures, delayed development and mental retardation....more »
    378. 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 »
    379. Phocomelia -- contractures -- absent thumb
     A very rare syndrome characterized mainly by absent thumbs, contractures and missing arm and leg bones....more »
    380. Physical inactivity
     When an individual is physically inactive...more »
    381. Placenta conditions
     Any condition that affects the placenta...more »
    382. 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 »
    383. Pneumonia, Aspiration
     Inflammation of the lungs and bronchioles caused by breathing in liquids and solids (usually the stomach contents)....more »
    384. Pneumonia, Bacterial
     Inflammation of the lungs and bronchioles caused by bacteria....more »
    385. Pneumonia, Staphylococcal
     Inflammation of the lungs and bronchioles caused by the Staphylococcal bacteria. The condition is not common and often occurs as a complication of influenza or other viral respiratory infections. This form of pneumonia is considered serious and up to a th...more »
    386. Pneumonia, Viral
     Inflammation of the lungs and bronchioles caused by a virus....more »
    387. Podder-Tolmie syndrome
     A rare syndrome characterized mainly by arthrogryposis, underdeveloped thumbs and meningoencephalocele....more »
    388. Polyarteritis nodosa
     A serious blood vessel disease where small and medium-sized arteries become swollen and damaged and are unable to adequately supply oxygenated blood to various tissues in the body. The disease can occur in a mild form or a serious, rapidly fatal form....more »
    389. Polyarthritis, rheumatic factor-negative
     A form of rheumatoid arthritis which doesn't involves the presence of rheumatoid factor in the blood. More than one joint is involved....more »
    390. Polychondritis
     A serious, progressive, episodic condition characterized by inflammation and degeneration of cartilage in the body. The duration and severity of the episodes can vary....more »
    391. Polycystic ovary syndrome
     Polycystic ovary syndrome (PCOS) is an endocrine disorder that affects approximately 5% of all women....more »
    392. 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 »
    393. Polyhydramnios
     Excess amniotic fluid around a fetus in the womb. The condition may occur as a result of gastrointestinal, neurological, lung or other disorders. Mild cases are asymptomatic but more severe cases can result in problems for the mother and the baby....more »
    394. Polysyndactyly -- cardiac malformation
     A very rare syndrome characterized mainly by an extra toe, webbed fingers and heart malformations....more »
    395. 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 »
    396. Porphyria
     A group of disorders characterized by excess production of porphyrin or its precursors which affects the skin and/or nervous system....more »
    397. Positive rheumatoid factor polyarthritis
     A form of rheumatoid arthritis which involves the presence of rheumatoid factor in the blood. More than one joint is involved....more »
    398. Powell-Chandra-Saal syndrome
     A very rare syndrome characterized mainly by webbed joints and heart, vertebral, ear and radial defects....more »
    399. Pregnancy
     The condition of supporting a fetus from conception till birth....more »
    400. Primary hypothyroidism
     Primary hypothyroidism is a condition in which a defect in the thyroid gland leads to reduced production of thyroid hormone....more »
    401. Progeria short stature pigmented nevi
     A very rare inherited disorder characterized by premature aging, short stature, and immune system deficiency. The type and severity of symptoms is variable....more »
    402. Propoxyphene -- Teratogenic Agent
     There is evidence to indicate that exposure to Propoxyphene 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 »
    403. Proud-Levine-Carpenter syndrome
     A very rare syndrome characterized mainly by abnormal brain development, a small head and genital abnormalities....more »
    404. Proximal spinal muscular atrophy
     A rare group of muscle disorders which mainly affects the muscles closest to the trunk of the body. Muscles become progressively weak and wasted due to damage to motor neurons in the spinal cord and brainstem....more »
    405. Pseudogout
     A condition which is characterized by an acute inflammatory arthropathy caused by calcium pyrophosphate crystals...more »
    406. Pseudogout, Familial
     Pseudogout is a condition characterised by painful joint swelling which can affect one or more joints. It tends to affect mainly adults and usually occurs in the knees. Familial pseudogout tends to occur with a high frequency within family groups....more »
    407. Pseudotrisomy 13 syndrome
     A very rare chromosomal disorder characterized mainly by abnormal forebrain development (holoprosencephaly), underdeveloped midface and extra fingers...more »
    408. 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 »
    409. 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 »
    410. 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 »
    411. Pulmonary atresia -- intact ventricular septum
     A very rare heart defect where the opening that allows blood to travel from the heart to the lung is narrowed or absent which impairs the body's ability to oxygenate blood. Death generally occurs without immediate medical attention....more »
    412. Pulmonary hypoplasia familial primary
     A rare malformation where the lungs fail to develop properly. Death often occurs as a result....more »
    413. Pulmonary lymphangiectasia, congenital
     A rare congenital condition where the lungs fail to develop normally. The disorder is characterized by the presence of dilated lymph ducts throughout the lungs....more »
    414. Pyknoachondrogenesis
     A very rare lethal syndrome characterized mainly by abnormal skeletal growth as well as abnormal bone calcification....more »
    415. 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 »
    416. Rabies
     An infectious disease that can affect any mammal including humans and is transmitted through the saliva of an infected animal. The infectious agent is the Neurotropic lyssavirus which affects the salivary gland and also causes neurological symptoms....more »
    417. Radiculopathy
     A condition characterized by disease of the nerve roots...more »
    418. Radio digito -- facial dysplasia
     A very rare syndrome characterized mainly by abnormalities of the arm bones and facial anomalies....more »
    419. Radio renal syndrome
     A very rare syndrome characterized mainly by kidney, forearm and and thumb abnormalities....more »
    420. Raine syndrome
     A very rare syndrome characterized mainly by increased bone density which ultimately results in death....more »
    421. Rajab-Spranger syndrome
     A rare syndrome characterized mainly by a skin fat disorder, mental retardation and deafnes....more »
    422. Rat-bite fever
     An infectious diseases where a bite from a rate transmits a bacterial or fungal infection. The symptoms depend on the infecting organism....more »
    423. Ray-Peterson-Scott syndrome
     A very rare syndrome characterized mainly by pelvic anomalies and joint contractures involving the legs....more »
    424. Reflex sympathetic dystrophy syndrome
     A condition characterized by pain and reduced range of motion in the shoulder and hand of the affected arm....more »
    425. Reiterís syndrome
     A form of reactive arthritis characterized by arthritis, urethritis, conjunctivitis and skin lesions....more »
    426. Renal dysplasia -- limb defects syndrome
     A very rare syndrome characterized mainly by abnormal kidney development and various arm bone defects....more »
    427. Reproductive toxicity -- Vinyl Chloride
     Vinyl Chloride is a suspected reproductive toxicant and exposure to it has the potential to negatively affect the human reproductive system. Vinyl Chloride is used mainly to make PVC products. The severity and nature of the adverse effect is variable and ...more »
    428. Rh Disease
     A disease that can occur when the mother's blood is not compatible with the fetal blood i.e. when an Rh-negative mother had a Rh-positive child. If the baby's blood is exposed to the mother's blood (through placenta, abortion, miscarriage, amniocentesis) ...more »
    429. Rhesus isoimmunisation
     The antibody mediated destruction of red blood cells by those sensitive...more »
    430. Rheumatic fever
     An inflammatory disorder that can occur as a complication of untreated streptococcal bacterial infection such as strep throat or scarlet fever. The condition may affect the brain, skin, heart and joints....more »
    431. Rhizomelic syndrome
     A very rare syndrome characterized mainly by short upper arm and thigh bones. Death frequently occurs in early childhood....more »
    432. 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 »
    433. Riedel syndrome
     A rare condition that occurs when fibrous tissue forms in the thyroid area and progressively destroys the thyroid gland....more »
    434. 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 »
    435. Rokitansky Van Bogaert syndrome
     A rare disorder characterized by pigmentation abnormalities of the skin and brain which causes various neurological symptoms as well as skin nevi....more »
    436. Rolland-Desbuquois syndrome
     A condition characterized by dwarfism, hydrocephalus, facial abnormalities and a narrow chest. Survival is possible past infancy. The condition is a less severe form of Silverman-Handmaker syndrome which is lethal....more »
    437. Roseola infantum
     Contagious infant conditions...more »
    438. Ross River virus
     Mosquito-borne virus in parts of Australia and other countries...more »
    439. Rubella
     A contagious viral infection caused by the Rubella virus which produces a rash and lymph node swelling. It can have serious implication in pregnant women as the virus can be transmitted through the placenta and cause serious fetal defects or even fetal de...more »
    440. Rudd-Klimek syndrome
     A very rare syndrome characterized mainly by abnormal development of the tailbone with deformities of the urogenital area as well as other anomalies....more »
    441. SARS
     Serious respiratory infection...more »
    442. Saal-Bulas syndrome
     A very rare syndrome characterized mainly by lobster-like hands, diaphragmatic hernia and a brain abnormality....more »
    443. Salpingitis
     Inflammation of the fallopian tubes...more »
    444. Samson-Viljoen syndrome
     A very rare syndrome characterized by small ears, abnormal chest wall and facial, lip and palate clefts....more »
    445. Say-Barber-Miller syndrome
     A very rare syndrome characterized mainly by immune system problems and a small head....more »
    446. Scabies
     Mite infection of the skin common in institutions....more »
    447. Scarlet fever
     A complication of infection from strep bacteria such as strep throat....more »
    448. Scheie syndrome
    449. Schisis association
     A medical term used to describe any condition involving two or more malformations of certain types. Malformations can include such things as oral clefts, neural tube defects, diaphragmatic hernias and omphaloceles....more »
    450. Schlegelberger-Grote syndrome
     A very rare syndrome characterized mainly by deafness, fingerlike thumbs and a blood disorder involving abnormally shaped blood platelets....more »
    451. Schneckenbecken dysplasia
     A very rare genetic disorder involving defective bone and cartilage development which causes cleft palate, short neck, short stature, unusual iliac shape and other bone abnormalities. The condition generally results in stillbirth or death soon after birth...more »
    452. Schofer beetz bohl syndrome
     A rare syndrome characterized mainly by brain calcification, mental retardation, short stature, diabetes insipidus and unusual facial appearance....more »
    453. 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 »
    454. Scleromyxedema
     A rare connective tissue disorder which causes the skin to become progressively thick and hard. The severity of symptoms is variable with lungs and circulation affected in some patients. The degree of resulting disability, disfigurement and response to tr...more »
    455. Seckel-like syndrome, Majoor-Krakauer type
     A very rare syndrome characterized by numerous abnormalities including poor fetal growth, reduced amniotic fluid and heart, brain spleen and kidney anomalies....more »
    456. Secondary syphilis
     A condition which is characterized by fever, multiform skin eruptions, iritis, alopecia, mucous patches and severe pain in the head and joints...more »
    457. Shingles
     Infectious viral infection occuring years after chickenpox infection....more »
    458. Short limb dwarf lethal, Mcalister Crane type
     A very rare syndrome characterized mainly by short arms and legs and resulting in stillbirth or infant death....more »
    459. Short limb dwarfism, Al Gazali type
     A very rare lethal disorder involving severe limb shortening and other skeletal deformities....more »
    460. Short ribs -- craniosynostosis -- polysyndactyly
     A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers....more »
    461. Short stature -- prognathism -- short femoral necks
     A very rare syndrome characterized mainly by short stature, protruding jaw and a hip anomaly....more »
    462. Shoulder Osteoarthritis
     A form of arthritis where the cartilage which cushions the bones in the shoulder joint as they move against each other, becomes progressively degraded and damaged. This causes problems such as pain, stiffness and impaired movement. Pain is not present in ...more »
    463. Shoulder arthritis
     Inflammation of the shoulder joint. The inflammation can be the result of such things as degenerative joint disease, gout, infection, trauma and autoimmune conditions....more »
    464. Sialidosis
     A condition also known as cherry red spot myoclonus syndrome...more »
    465. 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 »
    466. Silverman-Handmaker syndrome
     A condition characterized by dwarfism, hydrocephalus, facial abnormalities and a narrow chest. The condition results in death during or soon after birth and is a more severe form of Rolland-Debuquois syndrome....more »
    467. Sjogren's Syndrome
     Autoimmune disease damaging the eye tear ducts and other glands....more »
    468. 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 »
    469. Skeletal dysplasia, San Diego type
     A very rare disorder characterized mainly by short limbs and flattened spinal vertebrae. Infants are stillborn or die soon after birth....more »
    470. Slap-cheek syndrome
     Viral infection where children get rosy cheeks....more »
    471. Smith-Lemli-Opitz Syndrome
     A rare genetic condition involving a severe defect in the process of cholesterol synthesis resulting in low cholesterol levels in cells but high levels of the chemicals that are made into cholesterol....more »
    472. 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 »
    473. Spherophakia brachymorphia syndrome
     A rare genetic disorder characterized by short stature, and craniofacial, eye, tooth and limb abnormalities....more »
    474. Spinal Arthritis
     Inflammation of the spine joints. The inflammation can be the result of such things as degenerative joint disease, gout, infection, trauma and autoimmune conditions....more »
    475. Spine osteoarthritis
     A form of arthritis where the cartilage which cushions the bones in the spine as they move against each other, becomes progressively degraded and damaged. This causes problems such as pain, stiffness and impaired movement. Pain is not present in all cases...more »
    476. Spondylocostal dysostosis, autosomal recessive
     A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities. The recessive form is more severe than the dominantly inherited form....more »
    477. Spondylometaphyseal dysplasia, Kozlowski type
     A rare genetic disorder characterized by reduced calcification of the spine and pelvis resulting in short stature....more »
    478. Spranger-Schinzel-Myers syndrome
     A very rare syndrome characterized by brain malformation, underdeveloped fingers and bone abnormalities. It is believed to be possibly caused by exposure to ergotamine and diazoxide which may be teratogenic....more »
    479. Staphylococcal toxic shock syndrome
     A very rare, potentially fatal infection caused by the bacterial toxins produced by Staphylococcus aureus or Streptococcus pyogenes. The condition is often associated with tampon use but can originate from other sources....more »
    480. Stiff skin syndrome
     A rare inherited disorder characterized mainly by very stiff, thick skin that can affect the ability to move joints....more »
    481. Still's Disease, Adult-Onset
     A form of arthritic inflammation characterized by fever, rash and joint pain that occurs in adults. The cause is unknown....more »
    482. Stroke
     Serious brain event from bleeding or blood clots....more »
    483. Succinic acidemia
     A rare metabolic disorder characterized by high levels of succinic acid in the blood....more »
    484. Symmetrical thalamic calcifications
     A very rare disorder involving the calcification of a part of the brain called the thalamus which results in various abnormalities....more »
    485. Synovial osteochondromatosis
     A rare joint disorder where some of the tissue that lines the joint is replaced by bone-like tissue or cartilage. Usually only one joint is affected and it tends to be the knee, elbow or hip...more »
    486. Syphilis -- Teratogenic Agent
     There is strong evidence to indicate that the development of Syphilis 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 stage...more »
    487. Systemic Juvenile Rheumatoid Arthritis
     Onset of JRA with fevers and systemic symptoms...more »
    488. Temporal arteritis
     Inflamed head artery causing headache....more »
    489. Tendinitis
     Inflammation of a tendon....more »
    490. Tetraamelia -- multiple malformations
     A very rare syndrome characterized mainly by a lack of arm and leg bones (hands and feet are still present) as well as other malformations....more »
    491. Tetraploidy
     A very rare chromosomal disorder which results in various abnormalities. Infants are usually stillborn or die within months of birth....more »
    492. Thakker-Donnai syndrome
     A very rare, severe genetic syndrome characterized by abnormal internal organs and facial anomalies....more »
    493. Thalamic degeneration symmetrical infantile
     A very rare brain disorder characterized by abnormal brain development, seizures, respiratory distress and movement disorders....more »
    494. Thalassemia
     Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. There are two subtypes of the disorder (alpha and beta) depending on what portion of the he...more »
    495. Thanatophoric dysplasia, Glasgow variant
     A lethal form of dwarfism....more »
    496. Thin ribs -- tubular bones -- dysmorphism
     A very rare syndrome characterized mainly by thin ribs, narrow-shafted long bones and a large head....more »
    497. Thomas-Jewett-Raines syndrome
     A very rare syndrome characterized mainly by small eyes, small ears and a lack of fetal movement....more »
    498. Thoraco abdominal enteric duplication
     A very rare syndrome characterized by chest and abdominal abnormalities as well as intestinal duplication....more »
    499. Thymic-Renal-Anal-Lung dysplasia
     A rare syndrome characterized by abnormalities involving the lungs, anus, kidneys and thymus....more »
    500. Tinea
     A general term for various fungal skin afflictions; often incorrectly called ringworm....more »
    501. Toe Arthritis
     Inflammation of the toe joint. The inflammation can be the result of such things as degenerative joint disease, gout, infection, trauma and autoimmune conditions....more »
    502. Toe Osteoarthritis
     A form of arthritis where the cartilage which cushions the bones in the toe joints as they move against each other, becomes progressively degraded and damaged. This causes problems such as pain, stiffness and impaired movement. Pain is not present in all ...more »
    503. Tollner-Horst-Manzke syndrome
     A very rare syndrome characterized by extra fingers, cleft lip, cleft palate and abdominal organ anomalies....more »
    504. Toxoplasmosis -- Teratogenic Agent
     There is strong evidence to indicate that the development of Toxoplasmosis 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 »
    505. Tracheoesophageal fistula -- hypospadias
     A rare syndrome characterized by an abnormal opening between the trachea and esophagus and abnormal positioning of urethral opening in males....more »
    506. Transient Ischemic Attack
     Temporary disturbance of blood supply to a restricted area of the brain, resulting in brief neurologic dysfunction that persists, by definition, for less than 24 hours....more »
    507. Transplacental infections
     An infection that passes from the mother to the fetus via the placenta. A large variety of infections can occur like this and the type and severity of symptoms can vary greatly depending on the type of infection and the stage of fetal development at which...more »
    508. Triose phosphate-isomerase deficiency
     A very rare inherited condition involving a deficiency of triose phosphate-isomerase....more »
    509. Triploid syndrome
     A complete extra set of chromosomes....more »
    510. 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 »
    511. Tuberculosis
     Bacterial infection causing nodules forming, most commonly in the lung....more »
    512. Unusual facies, short stature, enamel hypoplasia, stiff joints and high-pitched voice
     A rare syndrome characterized mainly by short stature, stiff joints, unusual facial appearance, high-pitched voice and underdeveloped tooth enamel....more »
    513. Urophathy distal obstructive polydactyly
     A rare syndrome characterized by extra digits and an obstructive urinary system disorder....more »
    514. Uterine fibroids
     Benign nodules in the uterus wall....more »
    515. VACTERL with hydrocephalus, X-linked
     A rare X-linked syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull ...more »
    516. Viral Hemorrhagic Fevers
     Viral infections causing hemorrhagic fever (i.e. bleeding)...more »
    517. Vitamin A embryopathy
     A morbid condition of the embryo caused by the consumption of excess Vitamin A during pregnancy...more »
    518. 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 »
    519. Vocal cord dysfunction familial
     A rare inherited disorder where the vocal cord closes while breathing in which causes breathing difficulty which can be severe in some cases. Mental retardation is also associated....more »
    520. Warburton Anyane Yeboa syndrome
     A syndrome that is characterised by the occurrence of aneuploidy that can be manifested as monosomies or trisomies...more »
    521. Wegener's granulomatosis
     A rare disease involving blood vessel inflammation which can affect the blood flow to various tissues and organs and hence cause damage. The respiratory system and the kidneys are the main systems affected....more »
    522. West Nile fever
     Mosquito-borne infectious virus....more »
    523. Whole-body acute irradiation -- cerebral syndrome
     Tissue injury can result from exposure to radiation. The radiation dose, rate of dosing and tissues irradiated will determine the severity and type of symptoms. The effects may be chronic, delayed or acute. Cerebral radiation syndrome involves exposure of...more »
    524. Whole-body acute irradiation -- hematopoietic syndrome
     Tissue injury can result from exposure to radiation. The radiation dose, rate of dosing and tissues irradiated will determine the severity and type of symptoms. The effects may be chronic, delayed or acute. Hematopoietic syndrome involves exposure of the ...more »
    525. Wrist Arthritis
     Inflammation of the wrist joint. The inflammation can be the result of such things as degenerative joint disease, gout, infection, trauma and autoimmune conditions....more »
    526. Wrist osteoarthritis
     A form of arthritis where the cartilage which cushions the bones in the wrist joint as they move against each other, becomes progressively degraded and damaged. This causes problems such as pain, stiffness and impaired movement. Pain is not present in all...more »
    527. Zinc deficiency
     When there is a deficiency of zinc in an individuals body...more »

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