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Jackson-Weiss syndrome

ORPHA1540
Synonym(s) Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
JWS
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Neonatal
ICD-10
  • Q87.8
OMIM
UMLS
  • C0795998
MeSH
  • C537559
MedDRA -

Summary

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.

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Detailed information

Clinical genetics review
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