Pendred syndrome

Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement (goiter).

Synopsis

 congenital neurosensory deafness
 vestibular function defect
 cochlear malformation
 mental retardation

 euthyroid or compensated hypothyroidism
 goiter
 thyroid hormone organification defect
 thyroid carcinomas

Etiology

 Pendred syndrome is caused by mutation in the SLC26A4 gene (MIM.605646)

• germline mutations in SLC26A4 also cause nonsyndromic deafness DFNB4 type (MIM.600791) as well as enlarged vestibular aqueduct syndrome (EVA) (MIM.603545).