Medical Term:

Crouzon syndrome

Pronunciation: krŭ-zŏn[h]′

Definition: 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

Hide
(web2)