DO_rare_slim NCIthesaurus Crouzon syndrome UMLS_CUI:C0010273 MESH:D003394 NCI:C84653 Craniofacial Dysostosis Crouzon's disease DOID:2339 OMIM mapping confirmed by DO. [SN]. disease_ontology 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. SNOMEDCT_US_2025_09_01:28861008 MIM:123500 GARD:6206 ICD10CM:Q75.1 craniosynostosis