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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Craniofrontonasal dysplasia


Other Names for this Disease
  • CFND
  • CFNS
  • Craniofrontonasal dysostosis
  • Craniofrontonasal syndrome
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Overview



What is craniofrontonasal dysplasia?


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).[1]  Individuals with craniofrontonasal dysplasia have normal intelligence.  Women affected with this condition generally have more symptoms than affected men.[1]   Treatment may include surgery to correct the shape of the skull or to adjust the facial features associated with this condition.[2]
Last updated: 9/29/2011

References
  1. 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.
  2. 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.