| Metadata | |
|---|---|
| ID | DOID:2339 |
| Name | Crouzon syndrome |
| Definition | A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. http://en.wikipedia.org/wiki/Crouzon_syndrome, http://ghr.nlm.nih.gov/condition/crouzon-syndrome, http://rarediseases.about.com/cs/crouzonsyndrome/a/011804.htm, https://www.faces-cranio.org/crouzon |
| Xrefs |
SNOMEDCT_US_2023_03_01:28861008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Craniofacial Dysostosis [EXACT] Crouzon's disease [RELATED] |
| Parent Relationships |
is_a craniosynostosis |