Craniofrontonasal Dysplasia

Overview

Type of disease: Rare conditions

Craniofrontonasal dysplasia is a rare genetic condition caused by a change (mutation) in the EFNB1 gene.  Main features of this condition include widely spaced eyes (hypertelorism), broad-tipped nose, broad head (brachycephaly), prominent forehead (frontal bossing), asymmetry of facial features, and/or crossed eyes (strabismus).   Individuals with craniofrontonasal dysplasia have normal intelligence.  Women affected with this condition generally have more symptoms than affected men.    Treatment may include surgery to correct the shape of the skull or to adjust the facial features associated with this condition. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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