Crouzon syndrome

(redirected from Crouzon craniofacial dysostosis)
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Crou·zon syn·drome

(krŭ-zŏn[h]'), [MIM*123500]
craniosynostosis with broad forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla; autosomal dominant inheritance, caused by mutation in the fibroblast growth factor receptor 2 gene (FGFR2) on chromosome 10q. Crouzon syndrome with acanthosis nigricans is due to mutation in the fibroblast growth factor receptor 3 gene (FGFR3) on 4p.

Crouzon syndrome

(kro͞o-zŏn′, -zôN′)
n.
A genetic disorder characterized by premature closure of one or more cranial sutures, resulting in craniofacial abnormalities such as oxycephaly, widely spaced, protruding eyes, and hypoplasia of the maxilla. Also called craniofacial dysostosis.

Crouzon syndrome

An autosomal dominant condition (OMIM:123500) characterised by craniosynostosis causing secondary defects of facial bones and structures, including hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.

Molecular pathology
Mutations of FGFR2 cause Crouzon syndrome.

Crou·zon syn·drome

(krū-zōn[h]' sin'drōm)
Craniosynostosis with broad forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla; associated with hearing loss.

Crou·zon syn·drome

(krū-zōn[h]' sin'drōm) [MIM*123500]
Craniosynostosis with broad forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla.