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

More general terms

• developmental bone disorder
• genetic disease of bone/skeletal system

Database

• OMIM: https://mirror.omim.org/entry/123500
• OMIM: https://mirror.omim.org/entry/176943