Crouzon’s disease

Crouzon’s disease /kro̅o̅zonz″/ [Octave Crouzon, French neurologist, 1874–1938; L, dis + Fr, aise, ease] , a genetic disorder caused by mutations in the FGFR2 gene, characterized by a malformed skull; various ocular disorders, including exophthalmos, strabismus, and optic atrophy; a beaked nose; and an underdeveloped upper jaw. In addition, individuals with Crouzon syndrome may have dental problems and hearing loss. Cleft lip and palate are sometimes present.

Woman with Crouzon’s disease (Carlson, 2009/Courtesy A.R. Burdi)