Conditions / Syndrome
Jackson-Weiss syndrome
info · Syndrome
A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.
Signs and symptoms
- Broad first metatarsal
- Broad distal phalanx of the hallux
- Craniosynostosis
- Broad metatarsal
- Malar flattening
- Broad hallux
- 2-3 toe syndactyly
- Short first metatarsal
- Broad proximal phalanx of the hallux
- Coronal craniosynostosis
Also known as: JWS; craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome