Rare Disease Library

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Aase-Smith syndrome type 1

Aase-Smith I syndrome · Hydrocephalus-cleft palate-joint contractures syndrome

Asherman syndrome

Autoimmune lymphoproliferative syndrome

ALPS · Canale-Smith syndrome

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

Bannayan-Riley-Ruvalcaba syndrome

BRRS · Myhre-Riley-Smith syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

Marshall-Smith syndrome

Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Osteopathia striata-cranial sclerosis syndrome

Hyperostosis generalisata with striations · Robinow-Unger syndrome

Robinow-like syndrome

Saal-Greenstein syndrome

Robinow-Sorauf syndrome

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Silver-Russell syndrome

Silver-Russell dwarfism

Smith-Fineman-Myers syndrome

Smith-Magenis syndrome

17p11.2 microdeletion syndrome