| Term Name: | Jackson-Weiss syndrome |
|---|---|
| Synonyms: | craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome, JWS |
| Definition: | 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. |
| Ontology: | Human Disease [DOID:0111337] ( DOID:0111337 ) |