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Schwartz-Jampel syndrome

Disease definition

Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.

ORPHA:800

  • 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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