Other Names for this Disease
- Deafness with goiter
- Goiter-deafness syndrome
- Autosomal recessive sensorineural hearing impairment and goiter
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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.Pendred syndrome is a condition usually characterized by
Last updated: 11/24/2014
- 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.
- Pendred syndrome. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/pendred-syndrome.
- 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.
- Genetics Home Reference (GHR) contains information on Pendred syndrome. This website is maintained by the National Library of Medicine.
- The National Institute on Deafness and Other Communication Disorders (NIDCD) conducts and supports biomedical and behavioral research and research training in the normal and disordered processes of hearing, balance, smell, taste, voice, speech, and language. Click on the link to view information on this topic.
- 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 Pendred syndrome. Click on the link to view a sample search on this topic.