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Pendred syndrome
Pendred syndrome or Pendred disease is a genetic disorder leading to bilateral (both sides) sensorineural hearing loss and goitre with occasional hypothyroidism. It inherits in an autosomal recessive manner. It may account for 1-10% of all inherited causes of deafness. Additional recommended knowledgeIt has been linked to mutations in the PDS gene, which codes for the pendrin protein (solute carrier family 26, member 4, SLC26A4). The gene is located on the long arm of chromosome 7 (7q31). Mutations in the same gene also cause enlarged vestibular aqueduct syndrome, another congenital cause of deafness. EponymThe disease is named after Dr Vaughan Pendred (1869-1946), the English general practitioner who first described the syndrome in 1896.[1] DiagnosisThe syndrome is diagnosed by:
ReferencesCategories: Genetic disorders | Syndromes |
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This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Pendred_syndrome". A list of authors is available in Wikipedia. |