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Craniofrontonasal dysplasia

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


  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. 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. Accessed 9/28/2011.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Craniofrontonasal dysplasia. Click on the link to view a sample search on this topic.