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Crouzon syndrome

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


GARD Rare
Mondo Description Crouzon disease is characterized by craniosynostosis and facial hypoplasia.
Uniprot Description An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0007405:  Crouzon syndrome
GARD:0006206: 
MESH:D003394: 
NCIT:C84653: 
Orphanet:207: 
SCTID:28861008: 
UMLS:CN200892: