Category:Rare genetic syndromes
Pages in category "Rare genetic syndromes"
The following 179 pages are in this category, out of 179 total. This list may not reflect recent changes.
0–9
A
- Aarskog–Scott syndrome
- Ablepharon macrostomia syndrome
- Absence deformity of leg-cataract syndrome
- Ackerman syndrome
- Acro-oto-radial syndrome
- Acrocallosal syndrome
- Acrocraniofacial dysostosis
- Adams–Oliver syndrome
- Alazami syndrome
- Albinism–deafness syndrome
- Alström syndrome
- Amish lethal microcephaly
- Angel-shaped phalango-epiphyseal dysplasia
- Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome
- Aortic arch anomaly - peculiar facies - intellectual disability
- Aphalangy-syndactyly-microcephaly syndrome
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- Aplasia cutis-myopia syndrome
- Aromatase excess syndrome
- Arterial tortuosity syndrome
- Arts syndrome
- ATR-16 syndrome
- Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Autosomal dominant leukodystrophy with autonomic disease
- Autosomal recessive isolated ectopia lentis
B
- Bainbridge–Ropers syndrome
- Baller–Gerold syndrome
- Barber–Say syndrome
- Bare lymphocyte syndrome type II
- Bartsocas-Papas syndrome
- Beare–Stevenson cutis gyrata syndrome
- Beck–Fahrner syndrome
- Blepharophimosis intellectual disability syndromes
- Blepharophimosis, ptosis, epicanthus inversus syndrome
- Blue rubber bleb nevus syndrome
- Bohring–Opitz syndrome
C
- Arterial calcification due to CD73 deficiency
- Camptodactyly-taurinuria syndrome
- CAPOS syndrome
- Carpenter syndrome
- Cartilage–hair hypoplasia
- CDK13-related disorder
- Cerebro-costo-mandibular syndrome
- CHAMP1-associated intellectual disability syndrome
- Chromosome 5q deletion syndrome
- Chudley–Mccullough syndrome
- Cleft palate short stature vertebral anomalies syndrome
- CLOVES syndrome
- COACH syndrome
- Cochleosaccular degeneration with progressive cataracts
- Coffin–Lowry syndrome
- Compton-North congenital myopathy
- Conductive deafness-ptosis-skeletal anomalies syndrome
- Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- Corneal dystrophy-perceptive deafness syndrome
- Cornelia de Lange syndrome
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Cri du chat syndrome
- Cyprus facial neuromusculoskeletal syndrome
F
- Facial infiltrating lipomatosis
- Faciocardiorenal syndrome
- Familial benign copper deficiency
- Familial cutaneous collagenoma
- Familial disseminated comedones without dyskeratosis
- Familial episodic pain syndrome
- Familial multiple cafe-au-lait spots
- Familial opposable triphalangeal thumbs duplication
- Familial thoracic aortic aneurysm and aortic dissection
- FBXW7 neurodevelopmental syndrome
- Fibular aplasia-ectrodactyly syndrome
- Fine–Lubinsky syndrome
- Fragile X syndrome
- Fryns syndrome
- Fryns-Aftimos syndrome
G
- Galloway–Mowat syndrome
- Glutaminase deficiency
- Goldberg–Shprintzen syndrome
- Goldmann–Favre syndrome
- Gordon syndrome
- GRACILE syndrome
- Graham–Boyle–Troxell syndrome
- GRIN2B-related neurodevelopmental disorder
- Growth delay-hydrocephaly-lung hypoplasia syndrome
- Guizar–Vasquez–Sanchez–Manzano syndrome
- Gustavson syndrome
H
- Hall-Riggs syndrome
- Halperin-Birk syndrome
- Hand and foot deformity with flat facies
- Hereditary leiomyomatosis and renal cell cancer syndrome
- Histidinuria renal tubular defect syndrome
- Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
- Hoyeraal–Hreidarsson syndrome
- Hypohidrotic ectodermal dysplasia with immune deficiency
I
K
M
- MacDermot–Winter syndrome
- Malan syndrome
- Marfan syndrome
- Marfanoid–progeroid–lipodystrophy syndrome
- Maroteaux–Lamy syndrome
- Marshall syndrome
- McDonough syndrome
- Meacham syndrome
- Megalocornea-intellectual disability syndrome
- Melnick–Needles syndrome
- Microcephaly albinism digital anomalies syndrome
- Microcephaly deafness syndrome
- Milroy's disease
- Mowat–Wilson syndrome
- Muckle–Wells syndrome
- Multisystemic smooth muscle dysfunction syndrome
- Mungan syndrome
- Myhre syndrome
O
P
S
- Sack–Barabas syndrome
- Salt and pepper syndrome
- Say-Field-Coldwell syndrome
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Severe intellectual disability-progressive spastic diplegia syndrome
- Skin fragility-woolly hair-palmoplantar keratoderma syndrome
- Smith-Kingsmore syndrome
- Smith–Magenis syndrome
- SOFT syndrome
- Sonoda syndrome
- Split hand split foot-nystagmus syndrome
- Spondyloenchondrodysplasia
- Syndactyly-nystagmus syndrome due to 2q31.1 microduplication