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Genetic and Rare Diseases Information Center (GARD)

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Congenital deafness with vitiligo and achalasia


Other Names for this Disease

  • Deafness vitiligo achalasia
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Overview

Congenital deafness with vitiligo and achalasia is a syndrome characterized by deafness present from birth (congenital), associated with short stature, vitiligo, muscle wasting and achalasia (swallowing difficulties). The condition was described in a brother and sister born to first cousin parents. It is believed to be inherited in an autosomal recessive manner. 
Last updated: 10/6/2014

References

  1. Deafness - vitiligo - achalasia. Orphanet. February 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3239. Accessed 10/6/2014.
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  • 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 Congenital deafness with vitiligo and achalasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Deafness vitiligo achalasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.