Pendred syndrome

Pendred syndrome is an autosomal recessively inherited disorder characterised by a euthyroid goitre associated with sensorineural hearing loss

It is considered the most common form of syndromic hearing loss and accounts for upwards of 10% of hereditary deafness.

There is an autosomal recessive pattern inheritance, although this appears complex with most patients being compound heterozygotes. Variations in one gene (SLC26A4) which encodes for the protein pendrin, is found in ~50% of patients with this syndrome although multiple other genes (e.g. FOXI1, KCJN10) have been implicated 3

Inner ear malformations are an invariable finding in Pendred syndrome.  The most commonly described features include:

Other associated malformations include:

It was first described by Vaughan Pendred (1869–1946) in 1896 1,4.

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Article information

rID: 23397
Section: Syndromes
Tag: cases
Synonyms or Alternate Spellings:
  • Pendred's syndrome

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