Rare Disease Library

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Blepharofacioskeletal syndrome

Richieri Costa-Guion Almeida-Rodini syndrome

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Cerebellar-facial-dental syndrome

Cerebellofaciodental syndrome

Cerebro-oculo-facial-lymphatic syndrome

Fryns-Aftimos syndrome

Cerebrofacial arteriovenous metameric syndrome

CAMS

Cerebrofacioarticular syndrome

Van Maldergem syndrome

Cerebrooculonasal syndrome

CODAS syndrome

Cerebrooculodentoauriculoskeletal syndrome

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Crouzon syndrome-acanthosis nigricans syndrome

Crouzon-dermoskeletal syndrome

Cyprus facial-neuromusculoskeletal syndrome

Hallermann-Streiff syndrome

François dyscephalic syndrome · Oculomandibulofacial syndrome

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

Michels syndrome

3MC1 syndrome · Oculopalatoskeletal syndrome

Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

Hadziselimovic syndrome · Microcephaly-faciocardioskeletal syndrome

OBSOLETE: Cardioskeletal syndrome

OBSOLETE: Cerebrorenodigital syndrome

OBSOLETE: Oculo-skeletal-renal syndrome

OBSOLETE: Oculocerebroacral syndrome

OBSOLETE: Oculocerebroosseous syndrome

OBSOLETE: Plum syndrome

Oculo-palato-cerebral syndrome

Oculo-palato-cerebral dwarfism

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Oculocerebrofacial syndrome, Kaufman type

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Oculofaciocardiodental syndrome

OFCD syndrome · Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome

Oculoskeletodental syndrome

Oculo-skeleto-dental syndrome

Velo-facial-skeletal syndrome

Zellweger syndrome

Cerebrohepatorenal syndrome · ZS