vestibular aqueduct

Mutations in this gene are associated with enlarged vestibular aqueduct.

Although large vestibular aqueduct syndrome is a congenital condition, hearing loss may not be present from birth.

The vestibular aqueduct acts as a canal between the inner ear and the cranial cavity.

Enlarged vestibular aqueduct syndrome is often comorbid with other inner ear development problems, such as cochlear deformities.

The most common recessive syndromic forms of hearing impairment are Pendred syndrome, large vestibular aqueduct syndrome and Usher syndrome.

Studies show that genetic defects such as Pendred syndrome are related to large vestibular aqueduct syndrome, and have connected the disorder specifically to a defect on chromosome 7q31.

Hearing loss caused by large vestibular aqueduct syndrome is not inevitable, although people with the syndrome are at a much higher risk of developing hearing loss than the general population.

MRI scanning of the inner ear usually shows widened or large vestibular aqueducts with enlarged endolymphatic sacs and may show abnormalities of the cochleae known as Mondini dysplasia.

Although no single anatomic landmark is completely reliable for prevention of injury to the labyrinth, the singular nerve and its canal, and the operculum of the vestibular aqueduct, are used as important surgical landmarks.

When the endolymphatic duct and sac are larger than normal, as is the case in large vestibular aqueduct syndrome, endolymph is allowed to travel back from the endolympathic sac into the inner ear.

In some cases, language development worsens after head injury, demonstrating that the inner ear is sensitive to trauma in Pendred syndrome; this is as a consequence of the widened vestibular aqueducts usual in this syndrome.

Large vestibular aqueduct, also known as enlarged vestibular aqueduct syndrome, is a syndromic form of hearing loss, caused by enlargement of the vestibular aqueduct in the inner ear.

Mutations in the same gene also cause enlarged vestibular aqueduct syndrome (EVA or EVAS), another congenital cause of deafness; specific mutations are more likely to cause EVAS, while others are more linked with Pendred syndrome.