GTR Home > Conditions/Phenotypes > Enlarged vestibular aqueduct syndrome

Summary

Excerpted from the GeneReview: Pendred Syndrome/DFNB4
Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of hearing loss with or without other findings. Pendred syndrome is characterized by: severe-to-profound bilateral sensorineural hearing impairment that is usually congenital (or prelingual) and non-progressive; vestibular dysfunction; temporal bone abnormalities; and development of euthyroid goiter in late childhood to early adulthood. Variability of findings is considerable, even within the same family. DFNB4 is characterized by nonsyndromic sensorineural hearing impairment, vestibular dysfunction, and enlarged vestibular aqueduct (EVA). Thyroid defects are not seen in DFNB4.

Genes See tests for all associated and related genes

  • Also known as: FKH10, FKHL10, FREAC-6, FREAC6, HFH-3, HFH3, FOXI1
    Summary: forkhead box I1

  • Also known as: BIRK-10, KCNJ13-PEN, KIR1.2, KIR4.1, SESAME, KCNJ10
    Summary: potassium voltage-gated channel subfamily J member 10

  • Also known as: DFNB4, EVA, PDS, TDH2B, SLC26A4
    Summary: solute carrier family 26 member 4

Clinical features

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