Schwartz-Jampel syndrome

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).

Also known as: Aberfeld syndrome, Catel-Hempel syndrome, Catel-Hempel type dysostosis enchondralis metaepiphysaria, Osteochondromuscular dystrophy, SJS, Schwartz Jampel Syndrome, Schwartz-Jampel syndrome, Schwartz-Jampel-Aberfeld syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Schwartz-Jampel syndrome itself.