Pendred syndrome

Pendred syndrome is an autosomal recessively inherited disorder characterized by a euthyroid goiter 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 .

Radiographic features 


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

Other associated malformations include:

History and etymology

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

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