Congenital deafness with vitiligo and achalasia
Other Names for this Disease
- Deafness vitiligo achalasia
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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.Congenital deafness with vitiligo and achalasia is a syndrome characterized by deafness present from birth (congenital), associated with
Last updated: 10/6/2014
- 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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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.