Enlarged Vestibular Aqueduct Syndrome

Common Name(s)

Enlarged Vestibular Aqueduct Syndrome

DFNB4 with enlarged vestibular aqueduct is characterized by pre- or perilingual onset of sensorineural or mixed hearing loss, which may be fluctuating or progressive. The hearing loss is associated with temporal bone abnormalities, most commonly enlargement of the 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 (summary by {8:Campbell et al., 2001} and {20:Pryor et al., 2005}). Enlarged vestibular aqueduct is the most common form of inner ear abnormality and can be associated with disequilibrium symptoms in a minority of patients ({24:Valvassori, 1983}; {14:Jackler and de la Cruz, 1989}; {15:Levenson et al., 1989}; {4:Arcand et al., 1991}; {7:Belenky et al., 1993}; {17:Okumura et al., 1995}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Enlarged Vestibular Aqueduct Syndrome" for support, advocacy or research.

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Vestibular Disorders Association

VEDA's mission is to serve people with vestibular (inner ear balance) disorders by providing access to information, offering a support network, and elevating awareness of the challenges associated with these conditions.

Last Updated: 20 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Enlarged Vestibular Aqueduct Syndrome" for support, advocacy or research.

Logo
Vestibular Disorders Association

VEDA's mission is to serve people with vestibular (inner ear balance) disorders by providing access to information, offering a support network, and elevating awareness of the challenges associated with these conditions.

https://vestibular.org

Last Updated: 20 Feb 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Enlarged Vestibular Aqueduct Syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.
 

Author(s): Akira Ganaha, Tadashi Kaname, Kumiko Yanagi, Kenji Naritomi, Tetsuya Tono, Shin-ichi Usami, Mikio Suzuki

Journal:

 

Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (EVA) are caused by SLC26A4 mutations. The Okinawa Islands are the southwestern-most islands of the Japanese archipelago. And ancestral differences have been reported between people from ...

Last Updated: 29 May 2013

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[Enlarged vestibular aqueduct syndrome. A review of 55 paediatric patients].
 

Author(s): Saturnino Santos, Luciano Sgambatti, Antonio Bueno, Gustavo Albi, Alicia Suárez, Maria Jesús Domínguez

Journal: Acta Otorrinolaringol Esp. ;61(5):338-44.

 

Enlarged vestibular aqueduct (EVA) is the commonest congenital anomaly found with imaging techniques in paediatric sensorineural hearing loss (SNHL). Our aim was to describe clinical and audiological findings in paediatric hearing loss associated to EVA.

Last Updated: 21 Sep 2010

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Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.
 

Author(s): Tao Yang, Jose G Gurrola, Hao Wu, Sui M Chiu, Philine Wangemann, Peter M Snyder, Richard J H Smith

Journal: Am. J. Hum. Genet.. 2009 May;84(5):651-7.

 

Mutations in SLC26A4 cause nonsyndromic hearing loss associated with an enlarged vestibular aqueduct (EVA, also known as DFNB4) and Pendred syndrome (PS), the most common type of autosomal-recessive syndromic deafness. In many patients with an EVA/PS phenotype, mutation screening ...

Last Updated: 15 May 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Enlarged Vestibular Aqueduct Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

[Enlarged vestibular aqueduct syndrome: report of 3 cases and literature review].
 

Author(s): José A Pinto, Carlos Fernando Mello, Ana Carla S Marqui, Delmer J Perfeito, Roberto D P Ferreira, Rubens H Silva

Journal: Braz J Otorhinolaryngol. ;71(3):386-91.

 

The Enlarged Vestibular Aqueduct Syndrome is characterized by a widening of the vestibular aqueduct, associated with sensorineural hearing loss, or sometimes with mixed hearing loss, which may be congenital or acquired during childhood. The sensorineural hearing loss may be classified ...

Last Updated: 31 Jan 2006

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.