MeSH Browser

MeSH Supplementary: Deafness, Autosomal Recessive 4
Unique ID: C566366
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C566366
Entry Term(s): Dilated Vestibular Aqueduct; Enlarged Vestibular Aqueduct; Neurosensory Nonsyndromic Recessive Deafness 4
Heading Mapped to: *Hearing Loss, Sensorineural; Vestibular Aqueduct / abnormalities
Frequency: 131
Note: 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 of Entry: 2012/11/05
Revision Date: 2017/09/22

Deafness, Autosomal Recessive 4 MeSH Supplementary Concept Data 2024