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Diseases

Genetic and Rare Diseases Information Center (GARD)

Nance-Horan syndrome


Other Names for this Disease
  • Cataract dental syndrome
  • Cataract X-linked with Hutchinsonian teeth
  • Mesiodens cataract syndrome
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Overview

Nance-Horan syndrome is a rare genetic disorder that may be evident at birth. It is characterized by teeth abnormalities and cataracts, resulting in poor vision. Additional eye abnormalities are also often present, including a very small cornea and nystagmus. In some cases, the condition may also be associated with additional physical abnormalities and/or intellectual disability. The range and severity of symptoms may vary greatly from one person to another, even among affected members of the same family. Nance-Horan syndrome is caused by a mutation in the NHS gene and is inherited as an X-linked dominant trait, which means that both males and females can be affected, but males often have more severe symptoms.[1][2]
Last updated: 8/22/2011

References

  1. Nance-Horan Syndrome. National Organization for Rare Disorders (NORD). 2011; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1055/viewAbstract. Accessed 8/22/2011.
  2. Nance-Horan syndrome. Orphanet. September 2007; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=931. Accessed 8/22/2011.
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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

  • 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 Nance-Horan syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Cataract dental syndrome
  • Cataract X-linked with Hutchinsonian teeth
  • Mesiodens cataract 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.