Orphanet: Schwartz Jampel syndrome
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Schwartz-Jampel syndrome

Disease 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).

ORPHA:800

Classification level: Disorder
  • Synonym(s):
    • 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
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: G71.1  Q78.8
  • OMIM: 255800
  • UMLS: C0036391
  • MeSH: -
  • GARD: 250
  • MedDRA: -

Detailed information

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