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Jackson-Weiss syndrome

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

Summary

The Jackson-Weiss syndrome is characterized by tarsal and/or metatarsal coalitions and variable craniosynostosis, accompanied by facial anomalies, broad halluces and normal hands. It has been described in two large families. The condition is inherited as an autosomal dominant trait with high penetrance and variable expression. Mutations in the fibroblast growth factor receptor 2 gene (FGFR2) have been identified as the cause of this syndrome. Treatment consists of multiple-staged surgery.

Expert reviewer(s)

  • Pr Jean-Pierre FRYNS
  • Pr Griet VAN BUGGENHOUT

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Detailed information

Clinical genetics review
  • EN (2011)
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