Crouzon syndrome (DOID:2339)
Alliance: disease page
Synonyms: Craniofacial Dysostosis; Crouzon's disease
Alt IDs: OMIM:123500, ICD10CM:Q75.1, MESH:D003394, NCI:C84653, UMLS_CUI:C0010273
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.