Crouzon syndrome

Term ID

DOID:2339

Synonyms

• Craniofacial Dysostosis
• Crouzon's disease

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. (4)

References

• GARD:6206
• ICD10CM:Q75.1
• MESH:D003394
• NCI:C84653
• OMIM:123500
• SNOMEDCT_US_2023_03_01:28861008
• UMLS_CUI:C0010273

Ontology

Human Disease   ( DOID:2339 )