U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Enlarged vestibular aqueduct syndrome(DFNB4)

MedGen UID:
355050
Concept ID:
C1863752
Finding; Finding
Synonyms: DFNB4; Enlarged vestibular aqueduct; Large vestibular aqueduct syndrome
 
HPO: HP:0011387
Monarch Initiative: MONDO:0023069

Definition

Increased size of the vestibular aqueduct. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEnlarged vestibular aqueduct syndrome

Conditions with this feature

Cardiospondylocarpofacial syndrome
MedGen UID:
444060
Concept ID:
C2931461
Disease or Syndrome
Cardiospondylocarpofacial syndrome (CSCF) is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion, extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations (summary by Le Goff et al., 2016).
Autosomal recessive nonsyndromic hearing loss 4
MedGen UID:
761234
Concept ID:
C3538946
Disease or Syndrome
Pendred syndrome / nonsyndromic enlarged vestibular aqueduct (PDS/NSEVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL) that is usually congenital and often severe to profound (although mild-to-moderate progressive hearing impairment also occurs), vestibular dysfunction, and temporal bone abnormalities (bilateral enlarged vestibular aqueduct with or without cochlear hypoplasia). PDS also includes development of euthyroid goiter in late childhood to early adulthood whereas NSEVA does not.
Branchiootorenal syndrome 1
MedGen UID:
1632634
Concept ID:
C4551702
Disease or Syndrome
Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.
Hearing loss, autosomal dominant 87
MedGen UID:
1840978
Concept ID:
C5830342
Disease or Syndrome
Autosomal dominant deafness-87 (DFNA87) is characterized by nonsyndromic prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct (Su et al., 2020).

Professional guidelines

PubMed

Anand R, Stahl M, Hicks K, Murray G, Patel N, Gupta A, Otteson T
Int J Pediatr Otorhinolaryngol 2022 Apr;155:111067. Epub 2022 Feb 14 doi: 10.1016/j.ijporl.2022.111067. PMID: 35183013
Zhao FF, Lan L, Wang DY, Han B, Qi Y, Zhao Y, Zong L, Li Q, Wang QJ
Acta Otolaryngol 2013 Dec;133(12):1242-9. doi: 10.3109/00016489.2013.822555. PMID: 24245694

Recent clinical studies

Therapy

Yao J, Qian X, Bao J, Wei Q, Lu Y, Zheng H, Cao X, Xing G
Sci Rep 2015 Jun 2;5:10831. doi: 10.1038/srep10831. PMID: 26035154Free PMC Article
Kitahara T, Horii A, Mishiro Y, Kawashima T, Imai T, Nishiike S, Inohara H
Auris Nasus Larynx 2011 Apr;38(2):178-84. Epub 2010 Oct 20 doi: 10.1016/j.anl.2010.08.002. PMID: 20970268
Welling DB, Slater PW, Martyn MD, Antonelli PJ, Gantz BJ, Luxford WM, Shelton C
Am J Otol 1999 May;20(3):338-43. PMID: 10337975
Welling DB, Martyn MD, Miles BA, Oehler M, Schmalbrock P
Am J Otol 1998 Mar;19(2):145-51. PMID: 9520049

Prognosis

Hu C, He L, Li H, Ding Y, Zhang K, Li D, Zhu G, Wu B, Xu X, Xu Q
Genes (Basel) 2022 Jun 2;13(6) doi: 10.3390/genes13061010. PMID: 35741772Free PMC Article
Ruthberg JS, Kocharyan A, Farrokhian N, Stahl MC, Hicks K, Scarborough J, Murray GS, Wu S, Manzoor N, Otteson T
Int J Pediatr Otorhinolaryngol 2022 May;156:111072. Epub 2022 Feb 22 doi: 10.1016/j.ijporl.2022.111072. PMID: 35276529
He X, Peng Q, Li S, Zhu P, Wu C, Rao C, Chang J, Xie M, Zhong B, Lu X
Int J Pediatr Otorhinolaryngol 2017 Apr;95:104-108. Epub 2017 Feb 14 doi: 10.1016/j.ijporl.2017.02.013. PMID: 28576516
Zhao FF, Lan L, Wang DY, Han B, Qi Y, Zhao Y, Zong L, Li Q, Wang QJ
Acta Otolaryngol 2013 Dec;133(12):1242-9. doi: 10.3109/00016489.2013.822555. PMID: 24245694
Gopen Q, Zhou G, Whittemore K, Kenna M
Laryngoscope 2011 Sep;121(9):1971-8. Epub 2011 Aug 16 doi: 10.1002/lary.22083. PMID: 22024854

Clinical prediction guides

Ruthberg JS, Kocharyan A, Farrokhian N, Stahl MC, Hicks K, Scarborough J, Murray GS, Wu S, Manzoor N, Otteson T
Int J Pediatr Otorhinolaryngol 2022 May;156:111072. Epub 2022 Feb 22 doi: 10.1016/j.ijporl.2022.111072. PMID: 35276529
Archibald HD, Ascha M, Gupta A, Megerian C, Otteson T
Int J Pediatr Otorhinolaryngol 2019 Mar;118:147-151. Epub 2018 Dec 19 doi: 10.1016/j.ijporl.2018.12.023. PMID: 30634102
He X, Peng Q, Li S, Zhu P, Wu C, Rao C, Chang J, Xie M, Zhong B, Lu X
Int J Pediatr Otorhinolaryngol 2017 Apr;95:104-108. Epub 2017 Feb 14 doi: 10.1016/j.ijporl.2017.02.013. PMID: 28576516
Seo YJ, Kim J, Choi JY
Laryngoscope 2016 Jul;126(7):1633-8. Epub 2015 Sep 15 doi: 10.1002/lary.25664. PMID: 26372147
Mori T, Westerberg BD, Atashband S, Kozak FK
J Otolaryngol Head Neck Surg 2008 Feb;37(1):112-8. PMID: 18479637

Recent systematic reviews

Mori T, Westerberg BD, Atashband S, Kozak FK
J Otolaryngol Head Neck Surg 2008 Feb;37(1):112-8. PMID: 18479637

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...