Crouzon disease

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.

Synonym(s): craniofacial dysostosis, Crouzon disease

Crouzon disease

(kroo-zon′)

[Octave Crouzon, Fr. neurologist, 1874–1938]

An autosomal dominantly inherited congenital disease characterized by hypertelorism (widely spaced eyes), craniofacial dysostosis, exophthalmos, optic atrophy, and divergent squint. The disease is one of the craniosynostoses.

Crouzon,

Octave, French physician, 1874-1938.

Crouzon disease - craniostosis with widening of the skull and high forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla. Synonym(s): craniofacial dysostosis

Crouzon-Apert disease - Synonym(s): Apert syndrome