Rare Disease Library

Michels syndrome

3MC1 syndrome · Oculopalatoskeletal syndrome

Blepharofacioskeletal syndrome

Richieri Costa-Guion Almeida-Rodini syndrome

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

CODAS syndrome

Cerebrooculodentoauriculoskeletal syndrome

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Crouzon syndrome-acanthosis nigricans syndrome

Crouzon-dermoskeletal syndrome

Cyprus facial-neuromusculoskeletal syndrome

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

IBMPFD · Limb-girdle muscular dystrophy with Paget disease of bone

IVIC syndrome

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

OBSOLETE: Cardioskeletal syndrome

OBSOLETE: Oculo-skeletal-renal syndrome

OBSOLETE: Otopalatodigital syndrome

Oculo-palato-cerebral syndrome

Oculo-palato-cerebral dwarfism

Oculodentodigital dysplasia

Oculo-dento-digital dysplasia · ODOD syndrome

Oculoectodermal syndrome

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

Oculofaciocardiodental syndrome

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

Oculootodental syndrome

OOD

Oculoskeletodental syndrome

Oculo-skeleto-dental syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Otopalatodigital syndrome type 1

OPD I syndrome · OPD syndrome 1

Otopalatodigital syndrome type 2

OPD II syndrome · OPD syndrome 2

Velo-facial-skeletal syndrome