ORPHA:800

Schwartz-Jampel syndrome

Also called Aberfeld syndrome, Burton skeletal dysplasia, Burton syndrome, Catel-Hempel syndrome, Dysostosis enchondralis metaepiphysaria, Catel-Hempel type, Myotonic chondrodystrophy, Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies, Osteochondromuscular dystrophy, SJS, SJS1, Schwartz-Jampel syndrome type 1, Schwartz-Jampel-Aberfeld syndrome

Body system

Bone diseases

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:800 is classified under "Bone diseases" in the Orphanet nomenclature.