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 )

Relationships
is a type of: autosomal recessive disease syndrome