Rare Disease Library

C syndrome

OTCS · Opitz C trigonocephaly

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Celiac artery compression syndrome

Dunbar syndrome · Median arcuate ligament syndrome

CHAND syndrome

Baughman syndrome · CHANDS

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Classic progressive supranuclear palsy syndrome

Steele-Richardson-Olszewski disease · Richardson syndrome

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Congenital heart defect-round face-developmental delay syndrome

Sonoda syndrome

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Bassoe syndrome

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

Craniolenticulosutural dysplasia

Boyadjiev-Jabs syndrome

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome

Akesson syndrome

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

Deafness-opticoacoustic nerve atrophy-dementia syndrome

Jensen syndrome · hearing loss-opticoacoustic nerve atrophy-dementia syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Dubin-Johnson syndrome

Dubin-Sprinz disease · Hyperbilirubinemia type 2

Fanconi syndrome-ichthyosis-dysmorphism syndrome

Deal-Barrat-Dillon syndrome

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

Glossopalatine ankylosis

Cosack syndrome

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

Guillain-Barré syndrome

GBS · Guillain-Barré-Strohl syndrome

H syndrome

Harrod syndrome

Cranio-facio-digito-genital syndrome

Hepatic fibrosis-renal cysts-intellectual disability syndrome

Thompson-Baraitser syndrome

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder

Intellectual disability-early-onset cataract-microcephaly syndrome

Baralle-Macken syndrome

Intellectual disability-spasticity-ectrodactyly syndrome

Jancar syndrome

Jackson-Weiss syndrome

Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome · JWS

Jacobsen syndrome

Chromosome 11q deletion syndrome · Del(11)(q23.3)

Jalili syndrome

Cone rod dystrophy-amelogenesis imperfecta syndrome

Jawad syndrome

Jeune syndrome

Asphyxiating thoracic dystrophy of the newborn · JATD

JMP syndrome

Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome

Johanson-Blizzard syndrome

JBS

Jung syndrome

Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Bart-Pumphrey syndrome · Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Linear nevus sebaceus syndrome

Nevus sebaceus of Jadassohn · Nevus sebaceus syndrome