Crouzon syndrome

Also known as: Craniofacial dysostosis

Craniosynostosis with midface hypoplasia and proptosis.

Medical specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric neurosurgery
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: FGFR2, FGFR3

Etiology & mechanism

Activating FGFR2 mutations.

Gene(s) involved (2)

FGFR2FGFR3

Symptoms & signs (6)

beaked nosecraniosynostosishydrocephalushypertelorismmidface hypoplasiaproptosis

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.