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Abnormal cochlea morphology

MedGen UID:
871363
•Concept ID:
C4025858
•
Anatomical Abnormality
Synonym: Abnormality of cochlea
 
HPO: HP:0000375

Definition

An abnormality of the cochlea. [from HPO]

Conditions with this feature

Hearing loss, autosomal dominant 75
MedGen UID:
1713569
•Concept ID:
C5394059
•
Disease or Syndrome
DFNA75 is characterized by adult onset of moderate to severe, mid to high frequency hearing loss, progressing to involvement of all frequencies (Xia et al., 2019).
See: Condition Record
Hearing loss, autosomal dominant 75

Professional guidelines

PubMed

Cerebrospinal fluid otorrhea secondary to congenital inner ear dysplasia: diagnosis and management of 18 cases.
Wang B, Dai WJ, Cheng XT, Liuyang WY, Yuan YS, Dai CF, Shu YL, Chen B
J Zhejiang Univ Sci B 2019 Feb.;20(2):156-163. doi: 10.1631/jzus.B1800224. PMID: 30666849Free PMC Article
Pediatric cochlear implantation: candidacy evaluation, medical and surgical considerations, and expanding criteria.
Heman-Ackah SE, Roland JT Jr, Haynes DS, Waltzman SB
Otolaryngol Clin North Am 2012 Feb;45(1):41-67. doi: 10.1016/j.otc.2011.08.016. PMID: 22115681
Diagnosis and treatment of perilymph fistulas without hearing loss.
Singleton GT
Otolaryngol Head Neck Surg 1986 Apr;94(4):426-9. doi: 10.1177/019459988609400403. PMID: 3086801

Recent clinical studies

Etiology

Role of viral infection in sudden hearing loss.
Chen X, Fu YY, Zhang TY
J Int Med Res 2019 Jul;47(7):2865-2872. Epub 2019 May 27 doi: 10.1177/0300060519847860. PMID: 31130031Free PMC Article
Classification and Current Management of Inner Ear Malformations.
Sennaroğlu L, Bajin MD
Balkan Med J 2017 Sep 29;34(5):397-411. Epub 2017 Aug 25 doi: 10.4274/balkanmedj.2017.0367. PMID: 28840850Free PMC Article
Cochlear synaptopathy in acquired sensorineural hearing loss: Manifestations and mechanisms.
Liberman MC, Kujawa SG
Hear Res 2017 Jun;349:138-147. Epub 2017 Jan 10 doi: 10.1016/j.heares.2017.01.003. PMID: 28087419Free PMC Article
Meniere's disease.
Nakashima T, Pyykkö I, Arroll MA, Casselbrant ML, Foster CA, Manzoor NF, Megerian CA, Naganawa S, Young YH
Nat Rev Dis Primers 2016 May 12;2:16028. doi: 10.1038/nrdp.2016.28. PMID: 27170253
Waardenburg syndrome.
Read AP, Newton VE
J Med Genet 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. PMID: 9279758Free PMC Article

Diagnosis

Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse.
Zhu GJ, Huang Y, Zhang L, Yan K, Qiu C, He Y, Liu Q, Zhu C, Morín M, Moreno-Pelayo MÁ, Zhu MS, Cao X, Zhou H, Qian X, Xu Z, Chen J, Gao X, Wan G
EMBO Mol Med 2023 Nov 8;15(11):e17611. Epub 2023 Sep 11 doi: 10.15252/emmm.202317611. PMID: 37691516Free PMC Article
Meniere's disease.
Nakashima T, Pyykkö I, Arroll MA, Casselbrant ML, Foster CA, Manzoor NF, Megerian CA, Naganawa S, Young YH
Nat Rev Dis Primers 2016 May 12;2:16028. doi: 10.1038/nrdp.2016.28. PMID: 27170253
Auditory neuropathy--neural and synaptic mechanisms.
Moser T, Starr A
Nat Rev Neurol 2016 Mar;12(3):135-49. Epub 2016 Feb 19 doi: 10.1038/nrneurol.2016.10. PMID: 26891769
Perilymphatic fistula.
Maitland CG
Curr Neurol Neurosci Rep 2001 Sep;1(5):486-91. doi: 10.1007/s11910-001-0111-x. PMID: 11898560
Branchio-oculo-facial syndrome.
Raveh E, Papsin BC, Forte V
Int J Pediatr Otorhinolaryngol 2000 Jun 30;53(2):149-56. doi: 10.1016/s0165-5876(00)00310-4. PMID: 10906521

Therapy

Cochlear synaptopathy in acquired sensorineural hearing loss: Manifestations and mechanisms.
Liberman MC, Kujawa SG
Hear Res 2017 Jun;349:138-147. Epub 2017 Jan 10 doi: 10.1016/j.heares.2017.01.003. PMID: 28087419Free PMC Article
X-linked Malformation and Cochlear Implantation.
Smeds H, Wales J, Asp F, Löfkvist U, Falahat B, Anderlid BM, Anmyr L, Karltorp E
Otol Neurotol 2017 Jan;38(1):38-46. doi: 10.1097/MAO.0000000000001253. PMID: 27779564
Meniere's disease.
Nakashima T, Pyykkö I, Arroll MA, Casselbrant ML, Foster CA, Manzoor NF, Megerian CA, Naganawa S, Young YH
Nat Rev Dis Primers 2016 May 12;2:16028. doi: 10.1038/nrdp.2016.28. PMID: 27170253
Auditory neuropathy/dys-synchrony and its perceptual consequences.
Rance G
Trends Amplif 2005;9(1):1-43. doi: 10.1177/108471380500900102. PMID: 15920648Free PMC Article
Ototoxicity of chloroquine.
Matz GJ, Naunton RF
Arch Otolaryngol 1968 Oct;88(4):370-2. doi: 10.1001/archotol.1968.00770010372008. PMID: 5302911

Prognosis

Preoperative Imaging in Cochlear Implants.
Lee AY, Lee DY, Saunders JE
Otol Neurotol 2024 Apr 1;45(4):398-403. doi: 10.1097/MAO.0000000000004157. PMID: 38478408
Otopathologic Abnormalities in CHARGE Syndrome.
da Costa Monsanto R, Knoll RM, de Oliveira Penido N, Song G, Santos F, Paparella MM, Cureoglu S
Otolaryngol Head Neck Surg 2022 Feb;166(2):363-372. Epub 2021 Apr 20 doi: 10.1177/01945998211008911. PMID: 33874787
Role of viral infection in sudden hearing loss.
Chen X, Fu YY, Zhang TY
J Int Med Res 2019 Jul;47(7):2865-2872. Epub 2019 May 27 doi: 10.1177/0300060519847860. PMID: 31130031Free PMC Article
Update on Usher syndrome.
Saihan Z, Webster AR, Luxon L, Bitner-Glindzicz M
Curr Opin Neurol 2009 Feb;22(1):19-27. doi: 10.1097/wco.0b013e3283218807. PMID: 19165952
Waardenburg syndrome.
Read AP, Newton VE
J Med Genet 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. PMID: 9279758Free PMC Article

Clinical prediction guides

KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans.
Kalinousky AJ, Luperchio TR, Schrode KM, Harris JR, Zhang L, DeLeon VB, Fahrner JA, Lauer AM, Bjornsson HT
Genes (Basel) 2023 Dec 28;15(1) doi: 10.3390/genes15010048. PMID: 38254937Free PMC Article
Classification and Current Management of Inner Ear Malformations.
Sennaroğlu L, Bajin MD
Balkan Med J 2017 Sep 29;34(5):397-411. Epub 2017 Aug 25 doi: 10.4274/balkanmedj.2017.0367. PMID: 28840850Free PMC Article
Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.
Mathur P, Yang J
Biochim Biophys Acta 2015 Mar;1852(3):406-20. Epub 2014 Dec 4 doi: 10.1016/j.bbadis.2014.11.020. PMID: 25481835Free PMC Article
Sudden deafness: is it viral?
Merchant SN, Durand ML, Adams JC
ORL J Otorhinolaryngol Relat Spec 2008;70(1):52-60; discussion 60-2. Epub 2008 Feb 1 doi: 10.1159/000111048. PMID: 18235206Free PMC Article
Waardenburg syndrome.
Read AP, Newton VE
J Med Genet 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. PMID: 9279758Free PMC Article

Recent systematic reviews

Cochlear Implantation in Inner Ear Malformations: Systematic Review of Speech Perception Outcomes and Intraoperative Findings.
Farhood Z, Nguyen SA, Miller SC, Holcomb MA, Meyer TA, Rizk HG
Otolaryngol Head Neck Surg 2017 May;156(5):783-793. Epub 2017 Apr 4 doi: 10.1177/0194599817696502. PMID: 28374626
Auditory brainstem implant candidacy in the United States in children 0-17 years old.
Kaplan AB, Kozin ED, Puram SV, Owoc MS, Shah PV, Hight AE, Sethi RKV, Remenschneider AK, Lee DJ
Int J Pediatr Otorhinolaryngol 2015 Mar;79(3):310-315. Epub 2014 Dec 15 doi: 10.1016/j.ijporl.2014.11.023. PMID: 25577282Free PMC Article
Primary inner ear schwannomas: a case series and systematic review of the literature.
Van Abel KM, Carlson ML, Link MJ, Neff BA, Beatty CW, Lohse CM, Eckel LJ, Lane JI, Driscoll CL
Laryngoscope 2013 Aug;123(8):1957-66. Epub 2013 Jan 18 doi: 10.1002/lary.23928. PMID: 23335152
Cochlear implantation in children with anomalous cochleovestibular anatomy: a systematic review.
Pakdaman MN, Herrmann BS, Curtin HD, Van Beek-King J, Lee DJ
Otolaryngol Head Neck Surg 2012 Feb;146(2):180-90. Epub 2011 Dec 1 doi: 10.1177/0194599811429244. PMID: 22140206

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