Schwartz-Jampel syndrome
Schwartz-Jampel syndrome
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).
Also known as Aberfeld syndrome, burton skeletal dysplasia, burton syndrome, Catel-Hempel syndrome, Catel-Hempel type dysostosis enchondralis metaepiphysaria, dysostosis enchondralis metaepiphysaria, Catel-Hempel type, myotonic chondrodystrophy, myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies, Osteochondromuscular dystrophy, Schwartz Jampel Syndrome, Schwartz-Jampel syndrome, Schwartz-Jampel-Aberfeld syndrome, SJS — per MONDO