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Schwartz-Jampel syndrome
rareA 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).
- Identifiers
- MONDO:0009717 Orphanet:800
- Part of
- Autosomal recessive diseaseNeuromuscular disease caused by qualitative or quantitative defects of perlecanSpondyloepiphyseal dysplasiaSyndromic disease
- Also known as
- Aberfeld syndrome · burton skeletal dysplasia · burton syndrome · Catel-Hempel syndrome · Catel-Hempel type dysostosis enchondralis metaepiphysaria
Subtypes
| Disease | Subtypes |
|---|---|
| Schwartz-Jampel syndrome type 1 | |
| Stüve-Wiedemann syndrome 1 |
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