MIM 274600]

The prevalence is estimated at 1-9/100,000. Autosomal recessive complex transmission of:

-        biallelic mutations of SLC26A4 gene on 7q31 that codes for the pendrine

-        double heterozygous mutations (< 1%) SLC26A4 gene on 7q31 and FOXI1 gene on 5q34, or SLC26A4 gene on 7q31 and KCNJ10 gene on 1q23.2

Variable bilateral congenital sensorineural deafness associated with a goiter  generally euthyroid. This syndrome is the cause of approximately 7.5% of congenital deafness.

-        deafness is variable and sometimes preceded by dizziness: there are abnormalities in the temporal bones of the inner ear with enlargement of vestibular aqueduct and hypoplasia of the cochlea.

-        goiter (75%) that appears in childhood or early adulthood: it is due to a lack of iodine carrier; an underactive thyroid is possible if the iodine intake is low

Management: hearing device the amplification has to be regularly adapted or cochlear implant.

Anesthetic implications:

hearing-impired or deaf patient; check the thyroid function

References : 

Updated: July 2016