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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.
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).
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).

Professional guidelines

PubMed

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
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
Griffith AJ, Wangemann P
Hear Res 2011 Nov;281(1-2):11-7. Epub 2011 Jun 6 doi: 10.1016/j.heares.2011.05.009. PMID: 21669267Free PMC Article

Recent clinical studies

Etiology

Ocak E, Duman D, Tekin M
Balkan Med J 2019 Jul 11;36(4):206-211. Epub 2019 May 27 doi: 10.4274/balkanmedj.galenos.2019.2019.4.66. PMID: 31131597Free PMC Article
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
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
House JW, Sheehy JL, Antunez JC
Laryngoscope 1980 Nov;90(11 Pt 1):1804-9. doi: 10.1288/00005537-198011000-00007. PMID: 7432061
Tanzer RC
Clin Plast Surg 1978 Jul;5(3):317-36. PMID: 359217

Diagnosis

Phelan PJ, Rheault MN
Pediatr Nephrol 2018 Oct;33(10):1671-1683. Epub 2017 Nov 12 doi: 10.1007/s00467-017-3835-9. PMID: 29130116
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
Ječmenica J, Bajec-Opančina A, Ječmenica D
Childs Nerv Syst 2015 Apr;31(4):515-9. Epub 2015 Feb 17 doi: 10.1007/s00381-015-2628-3. PMID: 25686889
Maitland CG
Curr Neurol Neurosci Rep 2001 Sep;1(5):486-91. doi: 10.1007/s11910-001-0111-x. PMID: 11898560
Casselman JW
Neuroimaging Clin N Am 1996 May;6(2):265-89. PMID: 8726907

Therapy

Metwally MI, Alayouty NA, Basha MAA
Clin Imaging 2020 Oct;66:42-53. Epub 2020 Apr 20 doi: 10.1016/j.clinimag.2020.04.022. PMID: 32450482
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
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
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
Tanzer RC
Clin Plast Surg 1978 Jul;5(3):317-36. PMID: 359217

Prognosis

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
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
Giesemann A, Hofmann E
Clin Neuroradiol 2015 Oct;25 Suppl 2:197-203. Epub 2015 Jul 8 doi: 10.1007/s00062-015-0422-y. PMID: 26153464
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
Tanzer RC
Clin Plast Surg 1978 Jul;5(3):317-36. PMID: 359217

Clinical prediction guides

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
Li J, Li L, Jin X, Hu N, Kong X, Wang L, Li X, Dou W, Sun L, Li C, Gong R
Sci Rep 2023 Dec 6;13(1):21527. doi: 10.1038/s41598-023-49066-5. PMID: 38057393Free PMC Article
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
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
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

Recent systematic reviews

Benchetrit L, Jabbour N, Appachi S, Liu YC, Cohen MS, Anne S
Laryngoscope 2022 Jul;132(7):1459-1472. Epub 2021 Jul 7 doi: 10.1002/lary.29742. PMID: 34233033
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
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
Alemi AS, Chan DK
Otolaryngol Head Neck Surg 2015 Oct;153(4):512-7. Epub 2015 Jul 23 doi: 10.1177/0194599815596343. PMID: 26204902
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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