Orphanet: Jackson Weiss syndrome

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Jackson-Weiss syndrome

Disease definition

Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.


Classification level: Disorder
  • Synonym(s):
    • Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
    • JWS
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 123150
  • UMLS: C0795998
  • MeSH: C537559
  • GARD: 6796
  • MedDRA: -

Detailed information


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