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Crouzon syndrome (craniofacial dysostosis type 1, Crouzon craniofacial dysostosis)
Genetics:
- autosomal dominant
- associated with defects in FGFR2
- associated with defects in FGFR3
Clinical manifestations:
- craniosynostosis (premature fusion of the skull sutures)
- hypertelorism
- exophthalmos
- external strabismus
- parrot-beaked nose
- short upper lip
- hypoplastic maxilla
- relative mandibular prognathism
General
developmental bone disorder
genetic disease of bone/skeletal system
Database Correlations
OMIM correlations
MORBIDMAP 176943
References
OMIM :accession 123500