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 ) |