Jackson-Weiss syndrome

Genetics

• autosomal dominant
• associated with mutations in FGFR2 gene

Clinical manifestations

• variable severity
• craniosynostosis
• midfacial hypoplasia
• foot anomalies
  • broad great toes
  • medial deviation & tarsal-metatarsal coalescence

More general terms

• developmental bone disorder
• genetic disease of bone/skeletal system

Database

• OMIM: https://mirror.omim.org/entry/123150
• OMIM: https://mirror.omim.org/entry/176943