Other Names for this Disease
- Craniofrontonasal dysostosis
- Craniofrontonasal syndrome
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What is craniofrontonasal dysplasia?
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.
Last updated: 9/29/2011
- Wieacker P, Wieland I. Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox. Molecular Genetics and Metabolism. 2005; 86:110-116. http://www.ncbi.nlm.nih.gov/pubmed?term=16143553. Accessed 9/28/2011.
- Kawamoto HK, Heller JB, Heller MM, Urrego A, Gabbay JS, Wasson KL, Bradley JP. Craniofrontonasal dysplasia: a surgical treatment algorithm. Plastic and Reconstructive Surgery. 2007; 120:1943-1956. http://www.ncbi.nlm.nih.gov/pubmed/18090758. Accessed 9/28/2011.