Enlarged vestibular aqueduct

Enlarged vestibular aqueduct
Classification and external resources
OMIM	600791

Interior of right osseous labyrinth

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. It is one of the most common inner ear deformities which results in hearing loss during childhood.^[1]

Symptoms

Although large vestibular aqueduct syndrome is a congenital condition, hearing loss may not be present from birth. Age of diagnosis ranges from infancy to adulthood, and symptoms include fluctuating and sometimes progressive sensorineural hearing loss and disequilibrium.^[2]

Pathology

The vestibular aqueduct acts as a canal between the inner ear and the cranial cavity. Running through it is a tube called the endolymphatic duct, which normally carries a fluid called endolymph from the inner ear to the endolymphatic sac in the cranial cavity. 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 endolymphatic sac into the inner ear. This often results from abnormal or delayed development of the inner ear during childhood. Enlarged vestibular aqueduct syndrome is often comorbid with other inner ear development problems, such as cochlear deformities. 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.^[1]

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. Hearing loss is very likely.

The cochlea and vestibule, viewed from above. (Aqueductus vestibuli labeled at bottom right

References

1 2 S. Usami; Satoko Abe; Mike D. Weston; Hideichi Shinkawa; Guy Van Camp; William J. Kimberling (1999), "Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations", Human Genetics, 103: 188–192, doi:10.1007/s004390050933, PMID 10190331
↑ Madden, Colm; Halsted, Mark; Benton, Corning; Greinwald, John; Choo, Daniel (July 2003), "Enlarged Vestibular Aqueduct Syndrome in the Pediatric Population", Otology & Neurotology, 24: 625–632, doi:10.1097/00129492-200307000-00016

External links

www.hearinglosshelp.com

Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies

(1) Basic domains

1.2	Feingold syndrome Saethre–Chotzen syndrome

1.3	Tietz syndrome

(2) Zinc finger
DNA-binding domains

2.1	(Intracellular receptor): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis

2.2	Barakat syndrome Tricho–rhino–phalangeal syndrome

2.3	Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2

2.5	Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains

3.1	ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 Synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome

3.2	PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3

3.3	FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX

3.5	IRF6 Van der Woude syndrome Popliteal pterygium syndrome

(4) β-Scaffold factors
with minor groove contacts

4.2	Hyperimmunoglobulin E syndrome

4.3	Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome

4.7	Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome

4.11	Cleidocranial dysostosis

(0) Other transcription factors

0.6	Kabuki syndrome

Ungrouped

Transcription coregulators

Coactivator:	CREBBP Rubinstein–Taybi syndrome

Corepressor:	HR (Atrichia with papular lesions)

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