/Schwartz-Jampel syndrome

Schwartz-Jampel syndrome

Rare Disease

MONDO:0009717

Also Known As

Aberfeld syndromeCatel-Hempel syndromeCatel-Hempel type dysostosis enchondralis metaepiphysariaOsteochondromuscular dystrophySJSSchwartz Jampel SyndromeSchwartz-Jampel syndromeSchwartz-Jampel-Aberfeld syndromeburton skeletal dysplasiaburton syndromedysostosis enchondralis metaepiphysaria, Catel-Hempel typemyotonic chondrodystrophymyotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomaliesosteochondromuscular dystrophySchwartz Jampel Aberfeld syndromeSchwartz Jampel syndromemyotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalitiesmyotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities

Definition

A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).