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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Frontonasal dysplasia


Other Names for this Disease
  • Frontorhiny
  • Median facial cleft syndrome
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Overview


Frontonasal dysplasia is a very rare disorder that is characterized by abnormalities affecting the head and facial (craniofacial) region. Major physical features may include widely spaced eyes (ocular hypertelorism); a flat, broad nose; and a widow's peak hairline. In some cases, the tip of the nose may be missing; in more severe cases, the nose may separate vertically into two parts. In addition, an abnormal skin-covered gap in the front of the head (anterior cranium occultum) may also be present in some cases.[1] Other features may include a cleft lip, other eye abnormalities (coloboma, cataract, microphthalmia), hearing loss, and/or agenesis of the corpus callosum. The majority of affected individuals have normal intelligence.[2] The exact cause of frontonasal dysplasia is not known. Most cases occur randomly, for no apparent reason (sporadically). However, some cases are thought to run in families.[1] Researchers have suggested that this condition is caused by mutations in the ALX3 gene and is inherited in an autosomal recessive fashion.[3]
Last updated: 1/9/2012

References

  1. Frontonasal dysplasia. National Organization for Rare Disorders (NORD). 2003; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/809/viewAbstract. Accessed 1/9/2012.
  2. Frontonasal dysplasia. Orphanet. October 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=250. Accessed 1/9/2012.
  3. Frontonasal dysplasia 1: FND1. Online Mendelian Inheritance of Man (OMIM). November 2011; http://omim.org/entry/136760. Accessed 1/9/2012.
Your Questions Answered
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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 Frontonasal dysplasia. Click on the link to view a sample search on this topic.