National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Congenital deafness with vitiligo and achalasia


Other Names:
Deafness vitiligo achalasia
Categories:
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Achalasia 0002571
EEG abnormality 0002353
Hypopigmented skin patches
Patchy loss of skin color
0001053
Sensorineural hearing impairment 0000407
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] 		0003510
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Vitiligo
Blotchy loss of skin color
0001045
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Last updated: 7/1/2020

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • 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.

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  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.