Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Craniofrontonasal dysplasia


Other Names for this Disease

  • CFND
  • CFNS
  • Craniofrontonasal dysostosis
  • Craniofrontonasal syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Craniofrontonasal dysplasia have been answered. See questions and answers. You can also submit a new question.

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

  • Online Mendelian Inheritance in Man (OMIM) is a 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.
Other Names for this Disease
  • CFND
  • CFNS
  • Craniofrontonasal dysostosis
  • Craniofrontonasal syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.