Crouzon syndrome

created [InstanceEdit:1625204] Rothfels, K, 2011-09-30
databaseName DOID
dbId 1625203
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.
displayName Crouzon syndrome
identifier 2339
name
  • Crouzon syndrome
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • Craniofacial Dysostosis
url https://www.ebi.ac.uk/ols/ontologies/doid/terms?obo_id=DOID:2339
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