Pendred syndrome
MIM.274600 7q31
PDS, deafness with goiter
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)
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