Deafness, Autosomal Recessive 4 [Supplementary Concept]
A hereditary autosomal recessive disorder characterized by the onset of SENSORINEURAL HEARING LOSS or MIXED HEARING LOSS typically in infancy. It is associated with TEMPORAL BONE abnormalities, especially an enlarged vestibular aqueduct, but it can also include the more severe Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns. Mutations have been identified in the SLC26A4 gene, and more rarely the FOXI1 gene for enlarged vestibular aqueduct. OMIM: 600791
Date introduced: November 5, 2012
MeSH Unique ID: C566366
Heading Mapped to:
Entry Terms:
- Neurosensory Nonsyndromic Recessive Deafness 4
- Dilated Vestibular Aqueduct
- Enlarged Vestibular Aqueduct