| Term Name: | Beare-Stevenson cutis gyrata syndrome |
|---|---|
| Synonyms: | |
| Definition: | A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. |
| Ontology: | Human Disease [DOID:0050660] ( DOID:0050660 ) |