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Genetic and Rare Diseases Information Center (GARD)

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Pendred syndrome


Other Names for this Disease

  • Autosomal recessive sensorineural hearing impairment and goiter
  • Deafness with goiter
  • Goiter-deafness syndrome
  • PDS
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Overview

Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. In many cases, significant hearing loss is present at birth. In other cases, hearing loss does not develop until later in infancy or childhood. Some people have problems with balance caused by dysfunction of the part of the inner ear that helps with balance and orientation (the vestibular system). Pendred syndrome is inherited in an autosomal recessive manner. Mutations in 3 genes are currently known to cause the condition (SLC26A4, FOXI1, and KCNJ10) and are found in about half of affected people. Other genes responsible for the condition have not yet been identified.[1][2][3]
Last updated: 11/24/2014

References

  1. Fatemeh Alasti, Guy Van Camp, and Richard JH Smith. Pendred Syndrome/DFNB4. GeneReviews. May 29, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1467/. Accessed 11/24/2014.
  2. Pendred syndrome. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/pendred-syndrome.
  3. Richard Smith. Pendred syndrome. Orphanet. July, 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705. Accessed 11/24/2014.
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Basic Information

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 Pendred syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Autosomal recessive sensorineural hearing impairment and goiter
  • Deafness with goiter
  • Goiter-deafness syndrome
  • PDS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.