| Term Name: | Pfeiffer syndrome |
|---|---|
| Synonyms: | acrocephalosyndactylia type V |
| Definition: | An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. |
| Ontology: | Human Disease [DOID:14705] ( DOID:14705 ) |