Rare Disease Library

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

Blepharofacioskeletal syndrome

Richieri Costa-Guion Almeida-Rodini syndrome

Brooke-Spiegler syndrome

CYLD cutaneous syndrome

Cardiofaciocutaneous syndrome

CFC syndrome

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Crouzon syndrome-acanthosis nigricans syndrome

Crouzon-dermoskeletal syndrome

Cyprus facial-neuromusculoskeletal syndrome

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Faciocardiorenal syndrome

Eastman-Bixler syndrome

Femoral-facial syndrome

FFS · FHUFS

Gastrocutaneous syndrome

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

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

Michels syndrome

3MC1 syndrome · Oculopalatoskeletal syndrome

Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

Hadziselimovic syndrome · Microcephaly-faciocardioskeletal syndrome

OBSOLETE: Cardioskeletal syndrome

OBSOLETE: Oculo-skeletal-renal syndrome

Oculoskeletodental syndrome

Oculo-skeleto-dental syndrome

Orofaciodigital syndrome

OFD · Oral-facial-digital syndrome

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

Velo-facial-skeletal syndrome