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) is found in ~50% of patients with this syndrome although multiple other genes (e.g. FOXI1, KCJN10) have been implicated 3

CT

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 in 1896 1.

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Article information

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

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