Rare Disease Library

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Acro-renal-ocular syndrome

Anterior cutaneous nerve entrapment syndrome

ACNES · Intercostal nerve syndrome

CODAS syndrome

Cerebrooculodentoauriculoskeletal syndrome

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Donnai-Barrow syndrome

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

IVIC syndrome

Oculo-oto-radial syndrome · Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Michels syndrome

3MC1 syndrome · Oculopalatoskeletal syndrome

OBSOLETE: Cardioskeletal syndrome

OBSOLETE: Oculo-skeletal-renal syndrome

Oculodentodigital dysplasia

Oculo-dento-digital dysplasia · ODOD syndrome

Oculoectodermal syndrome

Toriello Lacassie Droste syndrome · Aplasia cutis congenita-epibulbar dermoids syndrome

Oculootodental syndrome

OOD

Oculoskeletodental syndrome

Oculo-skeleto-dental syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Pentalogy of Cantrell

Cantrell deformity · Cantrell syndrome

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Velo-facial-skeletal syndrome