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Other Names for this Disease
- Craniofrontonasal dysostosis
- Craniofrontonasal syndrome
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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.Craniofrontonasal dysplasia is a rare genetic condition caused by a change (
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.
- 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.