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Abnormal inner ear morphology

MedGen UID:
868967
•Concept ID:
C4023381
•
Anatomical Abnormality
Synonym: Morphological abnormality of the inner ear
 
HPO: HP:0011390

Definition

A structural anomaly of the internal part of the ear. [from HPO]

Conditions with this feature

Autosomal dominant nonsyndromic hearing loss 44
MedGen UID:
334525
•Concept ID:
C1843895
•
Disease or Syndrome
Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.
See: Condition Record
Hearing loss, autosomal dominant 77
MedGen UID:
1709284
•Concept ID:
C5394499
•
Disease or Syndrome
Autosomal dominant deafness-77 (DFNA77) is characterized by progressive hearing loss affecting high frequencies beginning in the second to third decades of life and affecting all frequencies by the fourth or fifth decades (Li et al., 2019).
See: Condition Record
Hearing loss, autosomal dominant 86
MedGen UID:
1840976
•Concept ID:
C5830340
•
Disease or Syndrome
Autosomal dominant deafness-86 (DFNA86) is characterized by late-onset progressive hearing loss through p53 (TP53; 191170)-mediated hair cell apoptosis (Zhang et al., 2020).
See: Condition Record
Autosomal dominant nonsyndromic hearing loss 44
Hearing loss, autosomal dominant 77
Hearing loss, autosomal dominant 86

Professional guidelines

PubMed

Analysis between phenotypes and genotypes of inner ear malformation.
Wang S, Ding W, Chen C, Xu B, Liu X, Bian P, Guo Y
Acta Otolaryngol 2019 Mar;139(3):223-232. Epub 2019 Feb 14 doi: 10.1080/00016489.2018.1554262. PMID: 30762457
Consensus statement: Long-term results of ABI in children with complex inner ear malformations and decision making between CI and ABI.
Sennaroğlu L, Colletti V, Lenarz T, Manrique M, Laszig R, Rask-Andersen H, Göksu N, Offeciers E, Saeed S, Behr R, Bayazıt Y, Casselman J, Freeman S, Kileny P, Lee DJ, Shannon RV, Kameswaran M, Hagr A, Zarowski A, Schwartz MS, Bilginer B, Kishore A, Sennaroğlu G, Yücel E, Saraç S, Ataş A, Colletti L, O'Driscoll M, Moon IS, Gärtner L, Huarte A, Nyberg G, Mocan BÖ, Atay G, Bajin MD, Çınar BÇ, Batuk MÖ, Yaralı M, Aydınlı FE, Aslan F, Kirazlı MC, Özkan HB, Hans JM, Kosaner J, Polak M
Cochlear Implants Int 2016 Jul;17(4):163-171. Epub 2016 Jul 21 doi: 10.1080/14670100.2016.1208396. PMID: 27442073
The syndrome of congenital deafness and otic meningitis: diagnosis and management.
Stool S, Leeds NE, Shulman K
J Pediatr 1967 Oct;71(4):547-52. doi: 10.1016/s0022-3476(67)80106-9. PMID: 5298894

Recent clinical studies

Etiology

Congenital Inner Ear Abnormalities and COVID-19-Related Ear Infections.
Maharaj S, Hari K
Ear Nose Throat J 2022 Aug;101(7):NP308-NP310. Epub 2020 Oct 23 doi: 10.1177/0145561320968934. PMID: 33095653Free 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
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
Stapedectomy in children.
House JW, Sheehy JL, Antunez JC
Laryngoscope 1980 Nov;90(11 Pt 1):1804-9. doi: 10.1288/00005537-198011000-00007. PMID: 7432061
Microtia.
Tanzer RC
Clin Plast Surg 1978 Jul;5(3):317-36. PMID: 359217

Diagnosis

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
Pre-, Intra- and Post-Operative Imaging of Cochlear Implants.
Vogl TJ, Tawfik A, Emam A, Naguib NN, Nour-Eldin A, Burck I, Stöver T
Rofo 2015 Nov;187(11):980-9. Epub 2015 Sep 1 doi: 10.1055/s-0035-1553413. PMID: 26327670
Imaging of the temporal bone.
Abele TA, Wiggins RH 3rd
Radiol Clin North Am 2015 Jan;53(1):15-36. doi: 10.1016/j.rcl.2014.09.010. PMID: 25476172
Imaging diagnosis.
Takegoshi H
Adv Otorhinolaryngol 2014;75:13-9. Epub 2013 Oct 11 doi: 10.1159/000350594. PMID: 24135343
Mondini dysplasia--late complications.
Mitchell DP, Rubin AM
J Otolaryngol 1985 Aug;14(4):265-7. PMID: 4057338

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
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
Acquired Hearing Loss in Children.
Kenna MA
Otolaryngol Clin North Am 2015 Dec;48(6):933-53. Epub 2015 Oct 6 doi: 10.1016/j.otc.2015.07.011. PMID: 26452421
Perilymph fistulae.
Dawes JD, Watson RT
Clin Otolaryngol Allied Sci 1979 Aug;4(4):291-302. doi: 10.1111/j.1365-2273.1979.tb01902.x. PMID: 314364
Microtia.
Tanzer RC
Clin Plast Surg 1978 Jul;5(3):317-36. PMID: 359217

Prognosis

Cochlear implantation and congenital inner ear anomalies.
Broomfield SJ, Bruce IA, Henderson L, Ramsden RT, Green KM
Cochlear Implants Int 2010 Jun;11 Suppl 1:166-8. doi: 10.1179/146701010X12671177818542. PMID: 21756605
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
Polypoidal choroidal vasculopathy.
Ciardella AP, Donsoff IM, Huang SJ, Costa DL, Yannuzzi LA
Surv Ophthalmol 2004 Jan-Feb;49(1):25-37. doi: 10.1016/j.survophthal.2003.10.007. PMID: 14711438
Enlargement of the cochlear aqueduct: fact or fiction?
Jackler RK, Hwang PH
Otolaryngol Head Neck Surg 1993 Jul;109(1):14-25. doi: 10.1177/019459989310900104. PMID: 8336962
Microtia.
Tanzer RC
Clin Plast Surg 1978 Jul;5(3):317-36. PMID: 359217

Clinical prediction guides

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Cochlear implantation in children with Mondini dysplasia: our experience.
Suri NM, Prasad AR, Sayani RK, Anand A, Jaychandran G
J Laryngol Otol 2021 Feb;135(2):125-129. Epub 2021 Feb 11 doi: 10.1017/S0022215121000372. PMID: 33568241
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
Osteogenesis imperfecta.
Huber MA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Mar;103(3):314-20. Epub 2007 Jan 12 doi: 10.1016/j.tripleo.2006.10.003. PMID: 17223585
The thyroid and audition.
Meyerhoff EL
Laryngoscope 1976 Apr;86(4):483-9. doi: 10.1288/00005537-197604000-00002. PMID: 772338

Recent systematic reviews

Systematic Review of Endolymphatic Sac Tumor Treatment and Outcomes.
Tang JD, Grady AJ, Nickel CJ, Ryan LE, Malone A, Canvasser L, Boyev KP
Otolaryngol Head Neck Surg 2023 Mar;168(3):282-290. Epub 2023 Jan 27 doi: 10.1177/01945998221108313. PMID: 35763364
Symptoms and clinical features in patients affected by endolymphatic sac tumor: a systematic review and meta-analysis.
Gioacchini FM, Kaleci S, Chiarella G, Viola P, Pisani D, Scarpa A, Tulli M, Pace A, Iannella G, Re M
Eur Arch Otorhinolaryngol 2022 Nov;279(11):5081-5088. Epub 2022 Jun 15 doi: 10.1007/s00405-022-07469-6. PMID: 35704074
Systematic review of cochlear implantation in CHARGE syndrome.
Amin N, Sethukumar P, Pai I, Rajput K, Nash R
Cochlear Implants Int 2019 Sep;20(5):266-280. Epub 2019 Jul 7 doi: 10.1080/14670100.2019.1634857. PMID: 31282293
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
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

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