Rare Disease Library

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

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

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

Blepharofacioskeletal syndrome

Richieri Costa-Guion Almeida-Rodini syndrome

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Crouzon syndrome-acanthosis nigricans syndrome

Crouzon-dermoskeletal syndrome

Cyprus facial-neuromusculoskeletal syndrome

Michels syndrome

3MC1 syndrome · Oculopalatoskeletal syndrome

OBSOLETE: Cardioskeletal syndrome

Oculoskeletodental syndrome

Oculo-skeleto-dental syndrome

Velo-facial-skeletal syndrome

Wiedemann-Rautenstrauch syndrome

Neonatal progeroid syndrome