Scoliosis
Symptom Checker

Results: 404 causes of Scoliosis

1. 1q terminal deletion
 A rare chromosomal disorder where the terminal part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities....read more »
2. 3C syndrome
 A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name....read more »
3. 3q deletion
 A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....read more »
4. 4p16.3 deletion
 A rare genetic disorder where a portion of chromosome 4 is deleted at a location called 16.3. The condition is characterized by malformations in most parts of the body as the deletion affects growth and development of the fetus....read more »
5. AREDYLD
 A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes....read more »
6. Acrodysostosis
 A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities....read more »
7. Acrodysplasia scoliosis
 A rare inherited genetic disorder characterized by short fingers and toes, scoliosis and other spine anomalies....read more »
8. Acrofacial dysostosis, Palagonia type
 One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild....read more »
9. Acromesomelic dysplasia Hunter Thompson type
 A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones....read more »
10. Acromesomelic dysplasia, Maroteaux type
 A rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies....read more »
11. Acrorenal mandibular syndrome
 A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw....read more »
12. Acute Appendicitis
 Infection of the appendix...read more »
13. Adolescent idiopathic scoliosis
 A condition which occurs to an adolescent without any known cause resulting in scoliosis of the spine...read more »
14. Agenesis of the corpus callosum -- mental retardation -- coloboma -- micrognathia
 A rare inherited disorder characterized by mental retardation, coloboma, small jaw and a brain anomaly....read more »
15. Aicardi syndrome
 A rare genetic disorder where the structure connecting the two halves of the brain fails to develop which results in seizures and eye abnormalities ....read more »
16. 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....read more »
17. Al Gazali Sabrinathan Nair syndrome
 A very rare syndrome characterized by bone and eye problems, seizures and mental retardation....read more »
18. Allain Babin Demarquez syndrome
 A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension....read more »
19. Alves Castelo dos Santos syndrome
 A rare syndrome characterized by hair, eye, skin and spinal abnormalities....read more »
20. Amastia, bilateral, with ureteral triplication and dysmorphism
 A very rare disorder characterized mainly by the absence of both breasts, triplicated ureters (normally they are duplicated), facial anomalies and various other defects....read more »
21. Amnion rupture sequence
 A rare disorder where the amniotic sac is ruptured resulting in various abnormalities....read more »
22. Andersen-Tawil syndrome
 A rare disorder where a genetic mutation causes periods of muscle weakness, heart rhythm abnormalities and various physical development abnormalities. It is believed to be caused by problems with the way the body utilizes potassium....read more »
23. Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies
 A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities....read more »
24. Anotia -- facial palsy -- cardiac defect
 A rare syndrome characterized mainly missing ears, facial weakness and congenital heart defects....read more »
25. Arakawa's syndrome 2
 An inherited metabolic disorder where an enzyme deficiency (methionine synthase) causes mental and physical retardation, blood disorders, degeneration of brain tissue and various other symptoms....read more »
26. Arthritis -- short stature -- deafness
 A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities....read more »
27. Arthrogryposis -- ophthalmoplegia -- retinopathy
 A very rare syndrome characterized by congenital contractures of the hands and feet as well as eye problems....read more »
28. Arthrogryposis -- severe scoliosis
 A rare disorder characterized by severe scoliosis and permanent flexion of muscles in the ends of the limbs. Other variable features may alsobe present....read more »
29. Arthrogryposis due to muscular dystrophy
 A rare disorder where a non-progressive muscle disease results in the presence of multiple joint contractures at birth....read more »
30. 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....read more »
31. Arthrogryposis multiplex congenita type 2B
 A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities....read more »
32. 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....read more »
33. 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....read more »
34. Arthrogryposis, distal, type 2B
 A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities....read more »
35. Arthropathy, progressive pseudorheumatoid, of childhood
 A form of progressive rheumatoid arthritis that affects children....read more »
36. Ashley syndrome
 A rare syndrome characterized mainly by an unusual facial appearance and muscle and skeletal abnormalities....read more »
37. Asymmetric short stature syndrome
 A rare disorder characterized mainly by short stature, unequal leg lengths and facial anomalies....read more »
38. Athabaskan severe combined immunodeficiency
 A severe immunodeficiency disorder found in Navajo and Apache populations....read more »
39. Aural atresia -- multiple congenital anomalies -- mental retardation
 A rare syndrome characterized by a number of malformations as well as mental retardation....read more »
40. Bannayan-Zonana syndrome
 A rare genetic disorder characterized by macrocephaly, intestinal polyposis, pigmentation of penis and benign tumor-like growths....read more »
41. Baraitser burn fixen syndrome
 A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face....read more »
42. Bartenwerfer syndrome
 A rare disorder characterized by dwarfism and facial and skeletal abnormalities. The disorder is a variant of Morquio disease....read more »
43. Bassoe syndrome
 A very rare syndrome characterized primarily by hypogonadism, cataracts during infancy and muscle weakness....read more »
44. Battaglia Neri syndrome
 A very rare syndrome characterized by mental retardation, small head, epilepsy, coarse facial features and skeletal anomalies. Only two reported cases of this syndrome....read more »
45. Bd syndrome
 A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder....read more »
46. Becker nevus syndrome
 A rare disorder characterized by a pigmented hairy skin patch associated with skin, muscle or bone defects on the same side of the body as the skin lesion....read more »
47. Bentham-Driessen-Hanveld syndrome
 A rare syndrome characterized mainly by the association of undescended testes, long thin fingers and mental retardation....read more »
48. Beta-ureidopropionase deficiency
 A metabolic disorder where the deficiency of an enzyme (Beta-ureidopropionase) results mainly in neurological abnormalities such as mental retardation. The symptoms are variable however....read more »
49. Bone conditions
 Conditions that affect the bones...read more »
50. Brachydactyly -- tibial hypoplasia
 A rare syndrome characterized by short digits and an underdeveloped or absent shin bone....read more »
51. Bruck syndrome
 A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth. There are two different subtypes of the disorder, each with a different genetic defect origin....read more »
52. CAMFAK syndrome
 A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature....read more »
53. Camptodactyly -- fibrous tissue hyperplasia -- skeletal dysplasia
 A rare syndrome characterized by a hand deformity and skeletal abnormalities....read more »
54. Camptodactyly syndrome, Guadalajara type 1
 A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head....read more »
55. Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
 A rare syndrome characterized by a hand deformity and skeletal abnormalities....read more »
56. Camptodactyly, tall stature, and hearing loss syndrome
 A rare syndrome characterized mainly by camptodactyly, tall stature and hearing loss. The hearing loss starts at birth or during infancy and progresses during childhood resulting in mild to severe hearing impairment....read more »
57. Camurati-Engelmann Disease
 A rare genetic connective tissue disorder characterized by diaphyseal dysplasia, muscle weakness and leg pain....read more »
58. Cartilage Hair Hypoplasia
 A rare genetic disorder characterized by short stature, skeletal abnormalities and fine, fragile hair....read more »
59. Cartilage-hair hypoplasia-like syndrome
 A rare syndrome characterized by thin hair shafts, short stature, short limbs and other skeletal abnormalities. The condition is identical to the skeletal abnormality component of cartilage-hair hypoplasia syndrome....read more »
60. Cat Eye Syndrome
 A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia....read more »
61. Cat's cry
62. Cerebellar ataxia, X-linked
 A disorder where degeneration of certain parts of the brain results in symptoms such as ataxia. The rate of progression can vary....read more »
63. Cerebellar atrophy with progressive microcephaly
 A very rare disorder characterized mainly by a small brain, small head, underdeveloped brain, brain degeneration, contractures, eye problems and seizures....read more »
64. Cerebelloparenchymal autosomal recessive disorder 3
 A rare, recessively inherited disorder characterized mainly by albinism, incoordination, low muscle tone and eye problems....read more »
65. Cerebral Palsy
 Any brain disorder causing movement disability...read more »
66. Charcot-Marie-Tooth disease, Type 4C
 CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and ...read more »
67. Charcot-Marie-Tooth disease, Type 4F
 CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4F has an autosomal recessive form of inheritan...read more »
68. Charcot-Marie-Tooth disease, Type 4H
 CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4H has an autosomal recessive form of inheritan...read more »
69. Charcot-Marie-Tooth disease, type 4
 A rare group of demyelinating motor and sensory neuropathies consisting of a number of subtypes. The various subtypes are caused by different genetic defects....read more »
70. Charcot-Marie-Tooth, demyelinating, autosomal recessive
 CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4 has an autosomal recessive form of inheritanc...read more »
71. Chitayat-Moore-Del Bigio syndrome
 A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies....read more »
72. Chondrodysplasia punctata
 A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The various forms of the disorders have varying severit...read more »
73. Chondrodysplasia punctata, non rhizomelic type
 A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The non-rhizomelic forms tend to be milder, with minima...read more »
74. Chondrodystrophia calcificans congenita
 A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....read more »
75. Chondrodystrophia punctata, autosomal dominant
 A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....read more »
76. Christian-Demyer-Franken syndrome
 A rare syndrome characterized mainly by mental retardation and skeletal abnormalities....read more »
77. Chromosome 1, Terminal deletion
 A genetic disorder where a portion of the genetic material from the long arm of chromosome 1 is missing. The symptoms or severity may vary somewhat between patients....read more »
78. Chromosome 1, uniparental disomy 1q12 q21
 A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....read more »
79. Chromosome 10, trisomy 10pter p13
 A rare chromosomal disorder where duplication of a portion of chromosome 10 causes various abnormalities such as a wasted build, gut and heart placement abnormalities and lack of reflexes....read more »
80. Chromosome 12 ring syndrome
 A rare chromosomal disorder where genetic material from one or both ends of chromosome 12 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic mate...read more »
81. 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....read more »
82. Chromosome 14 uniparental disomy syndrome
 A rare chromosomal disorder where two homologues are obtained from one parent....read more »
83. Chromosome 15 Ring
 A rare chromosomal disorder where genetic material from one or both ends of chromosome 15 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic mate...read more »
84. Chromosome 15q duplication syndrome
 A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....read more »
85. Chromosome 15q tetrasomy syndrome
 A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities....read more »
86. Chromosome 15q, partial duplication (distal q arm)
 A rare chromosomal disorder involving an extra copy of genetic material from the distal part of the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....read more »
87. Chromosome 15q, tetrasomy
 A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the ...read more »
88. Chromosome 15q, trisomy
 A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....read more »
89. Chromosome 17, deletion 17q23 q24
 A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material....read more »
90. Chromosome 17p, partial deletion
 A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material....read more »
91. Chromosome 17p, partial duplication
 A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....read more »
92. Chromosome 18, Tetrasomy 18p
 A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities....read more »
93. Chromosome 1p deletion syndrome
 A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....read more »
94. Chromosome 2 trisomy syndrome
 A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two....read more »
95. Chromosome 2, monosomy 2q37
 A very rare chromosomal disorder where a part of the long arm of chromosome 2 is missing which results in various birth defects and abnormalities. The features of the disorder are determined by the exact size and location of the deletion....read more »
96. Chromosome 2, trisomy 2p
 A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two....read more »
97. Chromosome 20, deletion 20p
 A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted....read more »
98. Chromosome 20p deletion syndrome
 A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted....read more »
99. 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....read more »
100. Chromosome 22, microdeletion 22q11
 A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted....read more »
101. Chromosome 22q deletion
 A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients....read more »
102. Chromosome 22q deletion syndrome
 A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities....read more »
103. Chromosome 22q11 deletion
 A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location....read more »
104. Chromosome 2p duplication syndrome
 A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two....read more »
105. Chromosome 3, Monosomy 3p2
 A very rare chromosomal disorder involving the deletion of the end portion of short arm of chromosome 3. Symptoms vary according to the exact size and location of the deletion....read more »
106. Chromosome 4 Ring
 A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion....read more »
107. Chromosome 4 ring syndrome
 A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion....read more »
108. Chromosome 4, trisomy 4q
 A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....read more »
109. Chromosome 4q duplication syndrome
 A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....read more »
110. 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....read more »
111. Chromosome 6, partial trisomy 6q
 Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable....read more »
112. Chromosome 6, trisomy 6q
 A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....read more »
113. 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....read more »
114. Chromosome 6q duplication syndrome
 A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....read 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....read 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....read more »
117. Chromosome 8 recombinant syndrome
 A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities....read more »
118. Chromosome 8 trisomy syndrome
 A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities....read more »
119. Chromosome 8, mosaic trisomy
 A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells...read more »
120. Chromosome 8, trisomy 8p
 A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated....read more »
121. Chromosome 8, trisomy 8q
 A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted....read more »
122. Chromosome 8p duplication syndrome
 A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated....read more »
123. Chromosome 8p inverted duplication syndrome
 A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of th...read more »
124. Chromosome 8p mosaic tetrasomy
 A rare chromosomal disorder where a part of the short arm of chromosome 8 is repeated four times in some of the body's cells instead of the normal two resulting in various abnormalities....read more »
125. Chromosome 8q duplication syndrome
 A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted....read more »
126. Chromosome 9, Partial Monosomy 9p
 A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities. The type and severity of symptoms is determined by the amount of genetic material that is missing....read more »
127. Chromosome 9, Trisomy 9p (Multiple Variants)
 A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities....read more »
128. Chromosome 9, monosomy 9p
 A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities....read more »
129. Chromosome 9, partial trisomy 9p
 A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic mate...read more »
130. Chromosome 9, trisomy 9p
 A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is duplicated so there is three copies of it instead of the normal two....read more »
131. 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...read more »
132. Chromosome 9p deletion syndrome
 A rare genetic disorder where a portion of the genetic material from the short arm of chromosome 9 is missing. The symptoms or severity may vary somewhat between patients....read more »
133. 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...read more »
134. Chromosome 9q duplication syndrome
 A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities....read more »
135. Chromosome Xp11.23-p11.22 Duplication syndrome
 A rare syndrome characterized by the association of a large head, lack of hair, scoliosis and a skin anomaly. The reported patients tend to involve parents who were related....read more »
136. Chromosomes 1 and 2, monosomy 2q duplication 1p
 A very rare chromosomal disorder where a portion of chromosome 2q shifts to chromosome 1p resulting in duplication of chromosome 1p and deletion of chromosome 2q. The defect results in various abnormalities including retarded fetal growth, small head and ...read more »
137. Cleft lip -- palate -- abnormal thumbs -- microcephaly
 A very rare syndrome characterized by a small head, thumb abnormalities and a cleft lip and palate....read more »
138. Coenzyme Q 10 (CoQ10), deficiency
 A rare inherited disorder characterized by the deficiency of Coenzyme Q 10. The range and severity of symptoms is variable....read more »
139. Coffin syndrome 1
 A rare inherited syndrome characterized mainly by spasticity, seizures, congenital heart defects, short stature and delayed mental and motor development....read more »
140. Coffin-Lowry syndrome
 A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers....read more »
141. Combarros Calleja Leno syndrome
 A rare disorder characterized by the association of glaucoma at birth with a form of ataxia....read more »
142. Congenital Gigantism with Skeletal Dysplasia
 A rare syndrome characterized mainly by the association of a large size at birth with various skeletal anomalies....read more »
143. Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal abnormalities
 A rare syndrome characterized by overgrowth of fatty tissue, blood vessel malformations, birth marks and skeletal and spinal abnormalities. The condition is a progressive one and there have been less than 20 reported cases....read more »
144. 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....read more »
145. Congenital SMA with arthrogryposis
 Type of SMA (genetic motor neuron disease) appearing from birth...read more »
146. Congenital conditions
 Any condition that you are born with such as birth defects or genetic diseases....read more »
147. Congenital fiber type disproportion
 A rare inherited disease involving abnormalities in the growth of type I muscle fibers....read more »
148. Conradi-Huenermann Syndrome
 A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....read more »
149. Cortada Koussef Matsumoto syndrome
 A rare syndrome characterized by various skeletal abnormalities, small head and mental retardation....read more »
150. Coumarin Derivatives -- Teratogenic Agent
 There is evidence to indicate that exposure to Coumarin Derivatives during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level o...read more »
151. Craniofrontonasal Syndrome
 A congenital condition with multiple anomalies associated with mental retardation and skeletal disfigurement....read more »
152. Craniofrontonasal dysplasia
 A rare genetic disorder mainly found in females and characterized by premature closing of skull bones and craniofacial and limb abnormalities....read more »
153. Cri-du-chat syndrome
 A rare genetic disorder where a small portion of the short arm (p) of chromosome 5 is missing. The condition is characterized by a high-pitched cry which is similar to a cat's cry....read more »
154. Crisponi syndrome
 A very rare syndrome characterized by excessive muscle contractions in response to stimulus, claw hand, distinctive facial features and fever. Most patients die within months of birth due to complications of hyperthermia but some cases are slowly progress...read more »
155. Cutis laxa, recessive type 2
 A very rare syndrome characterized primarily by loose skin and delayed development....read more »
156. Czeizel-Losonci syndrome
 A very rare syndrome characterized by missing fingers, ureter abnormalities, webbed fingers and toes and abnormal spinal development....read more »
157. Daish-Hardman-Lamont syndrome
 A very rare syndrome characterized mainly by loose joints, tall stature and buildup of fluid inside the skull....read more »
158. Del (2) (p15-p13)
 A rare chromosomal disorder characterized by severe developmental delay. The observations were made in two reported cases....read more »
159. Del (2) (q33-q36)
 A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....read more »
160. Del (2) (q37.3-qter) and dup (8) (q24.3-qter))
 A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree....read more »
161. Del (3) (pter-25)
 A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in 22 reported cases. The manifestations linked to most genetic defects are often variable to some degree....read more »
162. Del (3) (q12-q21)
 A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in a few reported cases. The manifestations linked to most genetic defects are often variable to some degree....read more »
163. Del(1) (23-q25)
 A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing....read more »
164. Deletion 5p
 A rare chromosomal disorder involving deletion of the genetic material from the short arm (p) of chromosome 5 which results in various abnormalities. The resulting condition is often called Cri-du-Chat Syndrome and features may vary somewhat depending on ...read more »
165. Deletion of the Short Arm of Chromosome 1
 A condition characterized by deletion of the short arm of chromosome 1...read more »
166. DiGeorge syndrome
 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid...read more »
167. Diastrophic dysplasia
 A rare genetic disorder characterized by short stature as well as skeletal, spine and ear abnormalities....read more »
168. Dicoumarol -- Teratogenic Agent
 There is evidence to indicate that exposure to Dicoumarol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure...read more »
169. Dicumarol -- Teratogenic Agent
 There is evidence to indicate that exposure to Dicumarol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure ...read more »
170. Diphenadione -- Teratogenic Agent
 There is evidence to indicate that exposure to Diphenadione during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposu...read more »
171. Distal trisomy 6q
 Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable....read more »
172. Duchenne Muscular Dystrophy
 An inherited degenerative disease of the muscles which progresses rapidly compared to other muscle wasting diseases....read more »
173. Dup (2) (p22-p21)
 A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree....read more »
174. Dup (2) (q32-qter)
 A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree....read more »
175. Dup(1) (q11-q25) mosaicism
 A very rare chromosomal disorder where a portion of the long arm (q11-q25) of chromosome one is duplicated in some of the body's cells....read more »
176. Duplication 6q, partial
 Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable....read more »
177. Dyggve-Melchior-Clausen Syndrome
 A rare genetic bone growth disorder characterized by short stature and other skeletal deformities....read more »
178. Dyserythropoietic anemia, congenital type 1
 A very rare genetic blood disorder where abnormal red blood cells are made resulting in anemia. Finger and toe abnormalities are also usually present....read more »
179. 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....read more »
180. Ectodermal dysplasia -- neurosensory deafness
 A rare syndrome characterized by nerve deafness, abnormally bent fifth fingers, ectodermal dysplasia and scoliosis....read more »
181. Ehlers-Danlos syndrome
 A group of inherited connective tissue disorders primarily involving the joints and skin. There are 11 disorders in the group....read more »
182. Ehlers-Danlos syndrome type VI
 A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities....read more »
183. Ehlers-Danlos syndrome with periventricular heterotopia
 The association of a brain malformation (periventricular nodular heterotopia) with a connective tissue disorder called Ehlers-Danlos syndrome....read more »
184. Ehlers-Danlos syndrome, 6B
 A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities but lysyl-hydroxylase activity is normal1....read more »
185. Ehlers-Danlos syndrome, classic type
 A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II....read more »
186. Emanuel syndrome
 A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure t...read more »
187. Emerinopathy
 A rare, progressive muscle disease that starts during childhood and involves muscle weakness and wasting....read more »
188. Emery-Dreifuss muscular dystrophy, X-linked
 A muscle wasting disorder mainly involving the muscles in the arms, legs, face, neck, spine and heart. Symptoms generally only occur in males but female carriers may have some symptoms....read more »
189. Eng Strom syndrome
 A rare syndrome characterized by short stature and episodes of locked finger joints....read more »
190. Epilepsy -- microcephaly -- skeletal dysplasia
 A rare syndrome characterized by epilepsy, a small head and skeletal abnormalities....read more »
191. Epileptic encephalopathy, early infantile, 2
 A genetic form of epilepsy which is severe and starts during infancy. The condition is considered an atypical form of Rett syndrome due to the development of stereotypical hand movements and repetitive behaviors. This form of the condition is caused by a ...read more »
192. Epiphyseal dysplasia -- hearing loss -- dysmorphism
 A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities....read more »
193. Epiphyseal dysplasia dysmorphism camptodactyly
 A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities....read more »
194. Escobar syndrome, type B
 A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine....read more »
195. FACES syndrome
 A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities....read more »
196. Facio-cardio-musculo-skeletal syndrome
 A rare syndrome characterized by facial, heart, muscle and skeletal abnormalities....read more »
197. Facioskeletalgenital syndrome, Rippberger type
 A rare syndrome characterized by facial, skeletal and genital abnormalities....read more »
198. Femoral facial syndrome
 A rare genetic disorder characterized by underdeveloped femur, short nose and cleft palate....read more »
199. Fibrous dysplasia of bone
 A bone development abnormality that can occur in one or more bones. The bone develops tumor-like growths in bones where normal bone is replaced by fibrous tissue. It can occur as a single lesion or in multiples. Malignancy can occur but is rare. Symptoms ...read more »
200. Focal dermal hypoplasia
 A rare genetic disorder characterized by bone, skin, teeth and pigmentation abnormalities as well as asymmetry of the face, trunk and extremities....read more »
201. Franceschini-Vardeu-Guala syndrome
 A very rare disorder characterized by premature puberty, lower lip pits and Kabuki syndrome. Kabuki syndrome is a mental retardation syndrome which also involves a range of physical abnormalities....read more »
202. Francois dyscephalic syndrome
 A rare genetic disorder characterized by very small stature, microphthalmia, small pinched nose and hypotrichosis....read more »
203. Fried syndrome
 A rare syndrome characterized mainly by mental retardation, buildup of fluid inside the skull and an unusual facial appearance. The disorder is inherted in a X-linked manner....read more »
204. Friedreich ataxia
 A progressive inherited neuromuscular disorder involving slow degeneration of the spinal cord and brain....read more »
205. Friedreich ataxia -- congenital glaucoma
 A rare disorder characterized by glaucoma at birth and a progressive neuromuscular disorder....read more »
206. Frontometaphyseal dysplasia
 A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles....read more »
207. Fryns macrocephaly
 A rare syndrome characterized by a large head, seizures, spasticity, weakness and unusual facial appearance....read more »
208. Fryns-Fabry-Remans syndrome
 A rare syndrome characterized by the progressive fusion of the front of the vertebrae as well as the excessive growth of the whole body....read more »
209. Fryns-Smeets-Thiry syndrome
 A rare syndrome characterized by short stature, mental retardation, small head, skeletal anomalies and various other abnormalities....read more »
210. Gangliosidosis, generalized GM1 type 3
 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 III involves a lesser degree of acc...read more »
211. Gaucher disease type 3
 A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 3 is a subacute neurologica...read more »
212. Gerodermia osteodysplastica
 A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily....read more »
213. Gerodermia osteodysplastica hereditaria
 A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily....read more »
214. Gerodermia osteodysplasticum
 A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily....read more »
215. Gigantism partial -- nevi -- hemihypertrophy -- macrocephaly
 A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body....read more »
216. Gloomy syndrome
 A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected....read more »
217. Glycogen storage disease type 2
 A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down....read more »
218. Glycogenosis type 2
 A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down. The severity of the condition is variable ...read more »
219. Gurrieri-Sammito-Bellussi syndrome
 A rare syndrome characterized by epilepsy, short stature and skeletal abnormalities....read more »
220. Hemi 3 syndrome
 A very rare syndrome where parts of the body undergo excessive growth give the body an asymmetrical appearance....read more »
221. Hemihypertrophy in context of NF
 Enlargement of one side of the body that frequently occurs in sufferers of neurofibromatosis....read more »
222. Hereditary peripheral nervous disorder
 A group of inherited disorders affecting the peripheral nerves (nerves other than the brain and spinal cord). The motor, sensory and/or autonomic nerves may be affected. Examples of such conditions includes Dejerine-Sottas disease and Charcot-Marie-Tooth ...read more »
223. Herrmann Opitz arthrogryposis syndrome
 A very rare syndrome characterized mainly by contractures, skeletal abnormalities and short stature....read more »
224. 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....read more »
225. Homocystinuria
 A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body....read more »
226. 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 ...read more »
227. Hunter-MacDonald syndrome
 A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas....read more »
228. Hunter-Mcdonald syndrome
 A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors....read more »
229. Hydrocephalus -- costovertebral dysplasia -- Sprengel anomaly
 A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly)....read more »
230. Hypomelanosis of Ito
 A rare genetic neurocutaneous disorder characterized by unusual patterns of depigmented skin and associated disorders such as seizures, psychomotor retardation and eye abnormalities....read more »
231. Hypophosphatemic rickets
 A rare genetic type of rickets involving defective phosphate transport and vitamin D metabolism in the kidneys. Poor calcium absorption from the intestines leads to bone softening....read more »
232. Hypoplastic thumb -- mullerian aplasia
 A rare disorder characterized by an underdeveloped thumb, vertebral abnormalities and abnormal development or lack of a part of the female reproductive system (uterus, cervix and upper vagina). The external genitalia appear normal and the ovaries usually ...read more »
233. Idiopathic adolescent scoliosis
 Spinal curvature that occurs in adolescents for no apparent reason....read more »
234. Intracranial aneurysms -- multiple congenital anomaly
 A very rare syndrome characterized mainly by brain aneurysms (dilated blood vessel) and various other abnormalities....read more »
235. Jaffe-Lichtenstein syndrome
 A rare genetic bone disorder characterized by benign bone growths which can cause painful swellings and bone deformities and makes bone prone to fractures....read more »
236. Jansen type metaphyseal chondrodysplasia
 A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities....read more »
237. Kabuki syndrome
 A rare genetic disorder characterized by distinctive facial features....read more »
238. Kennerknecht-Sorgo-Oberhoffer syndrome
 A very rare syndrome characterized mainly by absent gonads and an underdeveloped right side of the heart....read more »
239. Klippel Feil Syndrome
 A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable....read more »
240. Klippel-Feil syndrome recessive type
 A rare recessively inherited disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable....read more »
241. Klippel-Feil syndrome, dominant type
 A rare dominantly inherited disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable....read more »
242. Koussef nichols syndrome
 A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities....read more »
243. Kousseff-Nichols syndrome
 A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities....read more »
244. Larsen syndrome
 A rare genetic disorder characterized by multiple joint dislocation, a flat face and short fingernails....read more »
245. Larsen-like osseous dysplasia -- dwarfism
 A very rare syndrome characterized mainly by bone abnormalities, joint dislocations, unusual facial appearance and dwarfism....read more »
246. 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....read more »
247. Lethal chondrodysplasia, Moerman type
 A very rare lethal syndrome characterized mainly by abnormal bone development....read more »
248. Leukodystrophy
 A very rare group of metabolic diseases where chemical anomalies affect the development or maintenance of the protective coating around nerves (myelin sheath). The brain, spinal cord and peripheral nerves may be involved. The range and severity of symptom...read more »
249. 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...read more »
250. Lockwood-Feingold syndrome
 A rare genetic disorder characterized mainly by arthritis, skeletal abnormalities and a lack of subcutaneous fat....read more »
251. Loeys-Dietz syndrome
 A very rare syndrome characterized mainly by a bulge in the aorta (aneurysm), wide set eyes, cleft palate, divided uvula and twisted arteries....read more »
252. Lujan-Fryns syndrome
 A rare genetic disorder characterized by mental retardation and marfanoid habitus (features of Marfan's syndrome)....read more »
253. MPS-IV (Morquio Disease)
 A condition which is characterized by biochemically distinct mucopolysaccharidosis...read more »
254. Maffucci Syndrome
 A rare genetic disorder characterized by benign cartilage overgrowths, skeletal deformities and dark red irregular skin patches....read more »
255. Marden-Walker Syndrome
 A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression....read more »
256. Marfan syndrome
 A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue....read more »
257. Marfan-Like syndrome
 Any congenital condition with a group of symptoms that resembles Marfan syndrome but doesn't quite fulfill all the criteria. Marfan syndrome is a connective tissue disorder that affects the skeleton, lungs, eyes, heart and blood vessels....read more »
258. Marinesco-Sjogren syndrome
 A group of recessively inherited disorder characterized mainly by incoordination due to a brain anomaly....read more »
259. Mastocytosis -- short stature -- hearing loss
 A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment....read more »
260. Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia
 A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment....read more »
261. Mental retardation -- arachnodactyly -- hypotonia -- telangiectasia
 A very rare syndrome characterized mainly by mental retardation, short fingers, reduced muscle tone and spider veins (telangiectasia)....read more »
262. Mental retardation -- short stature -- heart and skeletal anomalies
 A very rare syndrome characterized mainly by mental retardation, short stature and heart and skeletal anomalies....read more »
263. Mental retardation -- short stature -- scoliosis
 A very rare syndrome characterized mainly by mental retardation, short stature and scoliosis....read more »
264. Mental retardation -- skeletal dysplasia -- abducens palsy
 A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and weakness of an eye muscle....read more »
265. Mental retardation athetosis microphthalmia
 A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder....read more »
266. Mental retardation, Wolff type
 A very rare syndrome characterized mainly by severe mental retardation and facial anomalies. The parents came from the same bloodline....read more »
267. Mental retardation, X-linked, Reish type
 A rare disorder characterized by mental retardation, brain anomalies, skeletal malformations, intestinal problems, eye and ear anomalies, cleft palate and kidney abnormalities. Some infants with the disorder die soon after birth due to breathing problems....read more »
268. Mental retardation, X-linked, Vitale type
 A rare disorder characterized by mental retardation and facial and skeletal anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms. The ...read more »
269. Metaphyseal chondrodysplasia, recessive type
 A recessively inherited skeletal disorder characterized by abnormal development of the bone metaphyses which results in short stature from birth....read more »
270. 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....read more »
271. Michels-Caskey syndrome
 A very rare disorder characterized by underdeveloped thumbs, spine deformities and lack of development of the female reproductive organs such as the uterus and vagina (mullerian duct aplasia). The external genitalia may appear to be normal....read more »
272. Micrencephaly corpus callosum agenesis
 A very rare disorder characterized by abnormal brain development which results in a very small brain. Patients may die during infancy and survivors suffer mental retardation and other physical abnormalities....read more »
273. Microbrachycephaly -- ptosis -- cleft lip
 A very rare syndrome characterized mainly by a small, short head, droopy eyelids and a cleft lip....read more »
274. Microcephaly brachydactyly kyphoscoliosis
 A very rare syndrome characterized by the association of profound mental retardation, a small head, short digits and a curved spine....read more »
275. Microsomia -- hemifacial -- radial defects
 A very rare syndrome characterized mainly by a wide range of defects involving the face, ear, mouth, vertebrae and radial bones....read more »
276. Minicore disease
 A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive for...read more »
277. Minicore myopathy with external ophthalmoplegia
 A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive for...read more »
278. Minicore myopathy, moderate, with hand involvement
 A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive for...read more »
279. Morquio syndrome type A
 A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate) needed to break it down....read more »
280. Morquio syndrome, type B
 A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (? galactosidase) needed to break it down....read more »
281. Mucopolysaccharidosis IV
 Disorder of mucopolysaccharide metabolism in infants....read more »
282. Multicore disease
 A nonprogressive congenital muscle disease which mainly involves weakness of the proximal muscles. The severity of symptoms is variable....read more »
283. Multiminicore disease (MmD)
 A rare congenital muscle disorder involving weakness and wasting of skeletal muscles. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), pr...read more »
284. Multiple endocrine neoplasia type 2b
 A rare genetic disorder characterized by multiple tongue neuromas and medullary thyroid carcinoma....read more »
285. Multiple pterygium syndrome
 A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies....read more »
286. Multiple pterygium syndrome, autosomal recessive
 A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies....read more »
287. Muscular dystrophy, Duchenne and Becker type
 An inherited l disorder characterized by progressive muscle weakness. The disorder is caused by a genetic anomaly and results in insufficient quantities of or ineffective dystrophin which is needed for normal muscle functioning. The disorder is expressed ...read more »
288. Muscular dystrophy, congenital, merosin-positive
 A very rare group of diseases that involves early infantile onset of muscle weakness, loss of muscle tone and contractures....read more »
289. Muscular dystrophy, limb-girdle, autosomal recessive, type 2E
 An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asy...read more »
290. Myasthenic syndrome, congenital, slow-channel
 A rare disorder involving progressive muscle wasting and weakness of variable severity depending on the exact origin of the genetic defect. The problem arises from defective processes at the junction of nerve and muscle cells....read more »
291. Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
 A condition where abnormal function of the bone marrow results in insufficient production of normal blood cells. The disorder is caused by the deletion of genetic material from chromosome 5q....read more »
292. Myopathy congenital multicore with external ophthalmoplegia
 A rare disorder characterized by muscle weakness and as well as weakness or paralysis of the external eye muscles. Severity of symptoms are variable....read more »
293. Myopathy with lactic acidosis and sideroblastic anemia
 A rare disorder of the bone marrow and skeletal muscles which manifests as muscle disease and anemia. Progressive intolerance to exercise usually starts during childhood with anemia occurring around adolescence....read more »
294. Myopathy, Myofibrillar, BAG3-Related
 An early-onset, progressive muscle disease....read more »
295. Myopathy, X-linked with postural muscle atrophy
 An inherited, adult-onset muscle disease where the postural muscles become progressively weak and wasted while other muscles become enlarged. During early adulthood, patients tend to have an athletic build and muscle symptoms tend to start during the four...read more »
296. Myopathy, congenital nonprogressive with Moebius and Robin sequences
 A rare inherited disorder characterized by nonprogressive muscle weakness from birth as well as the Moebius (congenital facial palsy with impaired ability to move eyes) and Pierre Robin sequence (underdeveloped jaw, cleft soft palate, abnormal tongue posi...read more »
297. Myopathy, myotubular
 A group of rare inherited disorders characterized by muscle wasting. There are three forms of the condition ranging from relatively mild to severe resulting in extreme weakness of breathing muscles....read more »
298. Myositis ossificans
 A very rare progressive disorder involving calcification of muscles, tendons and ligaments....read more »
299. Nail-Patella Syndrome
 A rare inherited disorder characterized by small or absent kneecap and ridged and/or absent nails as well as other abnormalities...read more »
300. 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....read more »
301. Native American myopathy
 A rare genetic disorder characterized by muscle disease from birth, cleft palate and malignant hyperthermia....read more »
302. Navajo neurohepatopathy
 A rare genetic disease found in Navajo populations. It involves peripheral nerve degeneration, liver disease and corneal ulcers. The genetic disease is believed to be caused by maternal exposure to uranium from waters contaminated by old mines....read more »
303. Nemaline myopathy 4
 A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different gene...read more »
304. Nemaline myopathy 7
 A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different gene...read more »
305. Neurofibromatosis
 Nerve disorders often leading to tumors on nerves....read more »
306. Neurofibromatosis syndrome
 A rare genetic disorder characterized by areas of increased and decreased skin pigmentation and the development of many non-cancerous nerve and skin tumors some of which may eventually become malignant....read more »
307. Neurofibromatosis syndrome Type II
 A rare genetic disorder characterized by areas of increased and decreased skin pigmentation, acoustic neuromas and the development of many noncancerous nerve and skin tumors some of which may eventually become malignant - it is a more severe form of type ...read more »
308. Neurofibromatosis-1
 Genetic disorder often leading to tumors on nerves....read more »
309. Neurofibromatosis-2
 Genetic disorder often leading to tumors on nerves....read more »
310. Neuronal intranuclear inclusion disease
 A very rare syndrome characterized mainly by muscle and nerve degeneration....read more »
311. Nevoid basal cell carcinoma syndrome
 A rare genetic disorder characterized by basal cell carcinomas, broade face and rib abnormalities....read more »
312. Nevus comedonicus syndrome
 A rare condition characterized by the development of large comedones which can occur in groups or linear arrangements. The skin lesions tend to occur mainly on the face, neck, arms and trunk. If it is associated with other congenital malformations, it is ...read more »
313. Nicoumalone -- Teratogenic Agent
 There is evidence to indicate that exposure to Nicoumalone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...read more »
314. Night blindness -- skeletal anomalies -- unusual facies
 A very rare syndrome characterized mainly by night blindness, a distinctive face and skeletal abnormalities....read more »
315. Occult spinal dysraphism
 A rare disorder characterized by progressive neurological deterioration due to compression of the spinal cord in the spine....read more »
316. Omphalocele -- exstrophy -- imperforate anus
 A very rare syndrome characterized mainly by the absence of an anal opening, spine defects and omphalocele (abdominal organ protruding from the belly button)....read more »
317. Opthalmoplegia progressive external scoliosis
 A rare disorder characterized by progressive weakening of external eye muscles and scoliosis....read more »
318. Osteogenesis imperfecta Type I
 A rare genetic connective tissue disorder characterized by fragile bones, blue sclerae and hyperextensible joints....read more »
319. Osteogenesis imperfecta type IV
 A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae. The osteoporosis tends to be moderate and there is generally no joint hyperextensibility....read more »
320. Osteogenesis imperfecta, Type VI
 A rare genetic connective tissue disorder characterized by fragile bones and light-colored eyes. There are a number of types of osteogenesis imperfecta and type 6 is considered a moderate to severe form....read more »
321. Osteogenesis imperfecta, type 1A
 A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a type of osteogenesis imperfecta I where the teeth are opalescent and blue sclerae may be absent....read more »
322. Osteogenesis imperfecta, type 1B
 A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a milder form of osteogenesis imperfecta I where the teeth are normal and blue sclerae may be absent....read more »
323. Osteogenesis imperfecta, type 4
 A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae - a form of OI involving moderate osteoporosis and no joint hyperextensibility....read more »
324. Osteogenesis imperfecta, type 6
 A rare form of the genetic connective tissue disorder characterized by fragile bones and light-colored eyes. There are a number of types of osteogenesis imperfecta and type 6 is considered a moderate to severe form....read more »
325. Osteoporosis -- macrocephaly -- mental retardation -- blindness
 A very rare syndrome characterized mainly by mental retardation, osteoporosis, blindness and a large head....read more »
326. Osteosclerosis, abnormalities of nervous system and meninges
 A very rare syndrome characterized mainly by increased bone density and nervous system abnormalities....read more »
327. 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....read more »
328. Oto-Palato-digital syndrome type 1
 A rare genetic disorder characterized by deafness, cleft palate, broad fingers and toes and short nails....read more »
329. Parastremmatic dwarfism
 A rare disorder characterized by severe dwarfism, kyphoscoliosis, contractures of the large joints and twisted and bowed limb bones....read more »
330. Pena Shokeir syndrome, type 1
 A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems....read more »
331. Periodic paralysis, potassium-sensitive, cardiodysrythmic type
 A rare disorder where a genetic mutation causes periods of muscle weakness, heart rhythm abnormalities and various physical development abnormalities. It is believed to be caused by problems with the way the body utilizes potassium. Periodic paralysis may...read more »
332. Phenindione -- Teratogenic Agent
 There is evidence to indicate that exposure to Phenindione during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...read more »
333. Phenprocoumon -- Teratogenic Agent
 There is evidence to indicate that exposure to Phenprocoumon during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expos...read more »
334. Pilo dento ungular dysplasia -- microcephaly
 A very rare syndrome characterized mainly by hair, tooth and nail abnormalities as well as a small head....read more »
335. Pilotto syndrome
 A very rare syndrome characterized mainly by congenital heart disease, cleft lip and palate, scoliosis, short stature and mental retardation....read more »
336. Polio
 Dangerous virus now rare due to vaccination....read more »
337. Posterior column ataxia with retinitis pigmentosa
 A very rare syndrome characterized mainly by progressive ataxia and eye degeneration resulting in blindness by the third decade as well as muscle problems....read more »
338. Prader-Willi syndrome
 A rare genetic disorder characterized by reduced muscle tone, obesity and small hands and feet....read more »
339. Proteus Syndrome
 A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body....read more »
340. Proud-Levine-Carpenter syndrome
 A very rare syndrome characterized mainly by abnormal brain development, a small head and genital abnormalities....read more »
341. Pseudoxanthoma elasticum, forme fruste
 An inherited systemic disease of connective tissue involving progressive calcification and degeneration of elastic fibers throughout the body, including the skin, eyes and cardiovascular system....read more »
342. Pulmonary fibrosis
 A scarring condition that affects the lungs...read more »
343. Pycnodysostosis
 A rare inherited biochemical disorder involving an enzyme (cathepsin k) deficiency which impairs the processes needed to maintain healthy bones....read more »
344. Pyle disease
 A rare genetic disorder characterized by numerous bone abnormalities as well as loss of vision and hearing....read more »
345. Quattrin mcpherson syndrome
 A rare syndrome characterized mainly by a large mouth, developmental delay and an unusual facial appearance....read more »
346. Renal rickets
 A bone disease where kidney dysfunction causes bone resorption and results in weak, soft bones....read more »
347. Retinopathy pigmentary -- intellectual deficit
 A rare syndrome characterized by eye disease and mental retardation....read more »
348. Retinopathy pigmentary mental retardation
 A rare genetic condition characterized by degeneration of retinal pigments, cataracts, small head and mental retardation....read more »
349. Retinopathy, pigmentary and mental retardation
 A rare syndrome characterized by eye disease and mental retardation....read more »
350. Rhizomelic chondrodysplasia punctata, type 3
 A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (alkyldihydroxyacetonephosphate synthase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 2q...read more »
351. Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
 A very rare syndrome characterized by an eye disorder, scoliosis and other skeletal abnormalities....read more »
352. Richieri-Costa Da Silva syndrome
 A very rare syndrome characterized mainly by mental retardation, skeletal anomalies and delayed muscle relaxation....read more »
353. Robinow syndrome, autosomal recessive
 A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and hypoplastic genitalia....read more »
354. Robinow syndrome, recessive form
 A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and underdeveloped genitals....read more »
355. Robinson syndrome
 A very rare condition observed in a West Coast Indian family. The condition is characterized by scoliosis, hearing impairment, ataxia and sensory loss. The severity, rate of progression and age of onset of the neuropathic symptoms was highly variable. Sen...read more »
356. Rubinstein-Taybi Syndrome
 A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla....read more »
357. Sandhaus Ben-Ami syndrome
 A rare disorder characterized by an underdeveloped kneecap and other skeletal abnormalities....read more »
358. Saul-Wilkes-Stevenson syndrome
 A very rare syndrome characterized mainly by muscle problems, abnormal skin pigmentation, movement disorder, mental retardation and scoliosis....read more »
359. Say-Barber-Miller syndrome
 A very rare syndrome characterized mainly by immune system problems and a small head....read more »
360. Sciatica
 Sciatica is a set of symptoms including pain that may be caused by general compression and/or irritation of one of five nerve roots that give rise to the sciatic nerve, or by compression or irritation of the sciatic nerve itself....read more »
361. Scoliosis as part of NF
 Spinal curvature associated with a condition called neurofibromatosis. Roughly a quarter of patients with neurofibromatosis will develop scoliosis. Neurofibromatosis is a rare genetic disorder characterized by areas of increased and decreased skin pigment...read more »
362. Scoliosis with unilateral unsegmented bar
 Abnormal spinal development where two or more vertebrae fail to separate on one side of the spine which causes the spine to curve. Thus several vertebrae are fused on one side of the spine. As the individual grows, the spine becomes increasingly curved to...read more »
363. Seckle syndrome
 A rare genetic disorder characterized by short stature, microcephaly and a prominent nose....read more »
364. Seven point syndrome
 A specific group of deformities that is associated with infantile scoliosis....read more »
365. Short stature locking fingers
 A rare syndrome characterized by short stature and episodes of locked finger joints....read more »
366. Soto's Syndrome
 A rare hereditary disorder characterized by excessive growth during the first few years of life as well as various other mental and physical anomalies....read more »
367. Southwestern Athabaskan genetic diseases
 A group of four genetic diseases that are unique to the Navajo and Apache (Southwestern Athabaskan) populations. The disease are Athabaskan severe combined immunodeficiency, Navajo neurohepatopathy, Navajo poikiloderma and Athabaskan brainstem dysgenesis....read more »
368. Spastic paraplegia 3, autosomal dominant
 A an early onset, very slow progressing form of spastic paraplegia which involves lower leg spasticity and weakness....read more »
369. Spastic paraplegia 7, autosomal recessive
 A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles....read more »
370. Spastic tetraplegic -- cerebral palsy
 A rare disorder characterized by the association of spasticity (muscle tightness of the arms and legs as well as cerebral palsy....read more »
371. Spinal Cord Disorders
 Any condition that affects the spinal cord...read more »
372. Spinal Cord Tumor
 Cancer of the spinal cord or central nervous system....read more »
373. Spinal cord neoplasm
 A growth (tumor) that arises from the spinal cord. The tumor may be benign or malignant....read more »
374. Spinal dysostosis, type Anhalt
 A very rare syndrome characterized by various spinal abnormalities....read more »
375. Spinal muscular atrophy type 2
 A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord....read more »
376. Spinal muscular atrophy, Ryukyuan type
 A recessively inherited disorder occurring in males from a Japanese inhabitants of Ryukyu Islands. The disorder is characterized by muscle wasting and weakness that affects the lower legs more than the arms....read more »
377. Spinocerebellar ataxia -- dysmorphism
 A rare inherited syndrome characterized by ataxia and unusual facial appearance....read more »
378. Spinocerebellar ataxia, autosomal recessive 1
 A neurological disorder characterized by progressive ataxia, tremor and muscle weakness and wasting. The rate of progression and severity is variable with some needing wheelchairs in their second decade and others still capable of some walking in their 4t...read more »
379. Split hand split foot mandibular hypoplasia
 A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw....read more »
380. Spondylocarpotarsal synostosis
 A rare genetic disorder characterized by short stature, fusion of toe and finger bones and failure of spinal segmentation....read more »
381. Spondylocostal dysostosis, autosomal recessive 1
 A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities. This form is severe and often results in infant death....read more »
382. Spondyloepimetaphyseal dysplasia with multiple dislocations
 A very rare syndrome characterized by abnormal bone growth and multiple joint dislocations....read more »
383. Spondyloepiphyseal dysplasia
 A rare bone growth disorder affecting the spine and ends of bones and resulting in short stature....read more »
384. Spondyloepiphyseal dysplasia tarda
 A rare genetic disorder characterized by short stature and skeletal abnormalities which are usually not apparent before 12 years....read more »
385. Spondylolisthesis
 A condition in which 2 or more vertebra may slide backwards or forwards on each other....read more »
386. Syncamptodactyly -- scoliosis
 A very rare disorder characterized by the association of a curved spine and partial webbing and permanent flexion of 2nd and 3rd toes....read more »
387. Syringomyelia
 Spinal cord cysts...read more »
388. Trichorhinophalangeal Syndrome Type II
389. Trichorhinophalangeal syndrome type 2
 A rare genetic disorder characterized by bony growths, bulbous nose, distinctive facial features and loose excess skin during infancy....read more »
390. Trisomy 12 mosaicism
 A very rare chromosomal disorder where there is an extra copy of chromosome 12 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cell...read more »
391. 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...read more »
392. Tuberculosis
 Bacterial infection causing nodules forming, most commonly in the lung....read more »
393. Turner Syndrome
 Rare chromosome syndrome with one X but no second X or Y chromosome....read more »
394. Type II Glycogen Storage Disease
 A condition which is characterized by a disease affecting glycogen storage...read more »
395. Upton Young syndrome
 A syndrome which is characterised by the association of multiple symptoms including mental retardation and multiple nevi...read more »
396. Velocardiofacial syndrome
 A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 dif...read more »
397. Venencie Powell Winkelmann syndrome
 A congenital condition that is characterised by the occurrence of a number of clinical signs and symptoms...read more »
398. Vertebral body fusion overgrowth
 A condition that is characterised by increased keratinization of the skin with a x-linked genetic trait...read more »
399. Waaler Aarskog syndrome
 A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly)....read more »
400. Watson syndrome
 A rare syndrome characterized by short stature, reduced intelligence, café au lait spots and narrowing of pulmonary valves....read more »
401. Weaver Syndrome
 A syndrome that is considered a variant of the Marshall-Smith syndrome...read more »
402. Weismann-Netter-Stuhl Syndrome
 A very rare inherited disorder characterized by bone development abnormalities....read more »
403. Williams Syndrome
 A syndrome characterised by mental retardation, facial abnormalities and emotional instability...read more »
404. Wolf-Hirschhorn Syndrome
 A syndrome which is caused by a partial deletion of the short arm of chromosome 4....read more »

Start Again »