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Abnormal location of ears

MedGen UID:
867436
Concept ID:
C4021810
Anatomical Abnormality
Synonym: External ear position defect
 
HPO: HP:0000357

Definition

Abnormal location of the ear. [from HPO]

Conditions with this feature

Craniofacial dyssynostosis
MedGen UID:
347473
Concept ID:
C1857511
Disease or Syndrome
A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.

Professional guidelines

PubMed

Chung HY, O TM, Tombris S, Meyer L, Waner M
J Oral Pathol Med 2022 Nov;51(10):872-877. Epub 2022 Nov 22 doi: 10.1111/jop.13368. PMID: 36181711
Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, Koehler KR, El-Amraoui A, Chen Z, Lam BL, Liu X
Ear Hear 2022 Jan/Feb;43(1):1-8. doi: 10.1097/AUD.0000000000001066. PMID: 34039936Free PMC Article
Deveze A, Matsuda H, Elziere M, Ikezono T
Adv Otorhinolaryngol 2018;81:133-145. Epub 2018 Apr 6 doi: 10.1159/000485579. PMID: 29794455

Recent clinical studies

Etiology

Sorge I, Hirsch FW, Fuchs M, Gräfe D, Dietz A, Sorge M
Rofo 2023 Oct;195(10):896-904. Epub 2023 Jun 22 doi: 10.1055/a-2081-4119. PMID: 37348530
Bharti K, den Hollander AI, Lakkaraju A, Sinha D, Williams DS, Finnemann SC, Bowes-Rickman C, Malek G, D'Amore PA
Exp Eye Res 2022 Sep;222:109170. Epub 2022 Jul 11 doi: 10.1016/j.exer.2022.109170. PMID: 35835183Free PMC Article
Shin TJ, Totten DJ, Tucker BJ, Nelson RF
Otol Neurotol 2022 Jun 1;43(5):547-558. Epub 2022 Mar 2 doi: 10.1097/MAO.0000000000003503. PMID: 35239619
Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, Koehler KR, El-Amraoui A, Chen Z, Lam BL, Liu X
Ear Hear 2022 Jan/Feb;43(1):1-8. doi: 10.1097/AUD.0000000000001066. PMID: 34039936Free PMC Article
Pang J, Xiong H, Liao Q, Xu Y, Huang Q, Ou Y
Eur Arch Otorhinolaryngol 2019 Jul;276(7):1961-1967. Epub 2019 May 15 doi: 10.1007/s00405-019-05431-7. PMID: 31093733

Diagnosis

Chiang MF, Quinn GE, Fielder AR, Ostmo SR, Paul Chan RV, Berrocal A, Binenbaum G, Blair M, Peter Campbell J, Capone A Jr, Chen Y, Dai S, Ells A, Fleck BW, Good WV, Elizabeth Hartnett M, Holmstrom G, Kusaka S, Kychenthal A, Lepore D, Lorenz B, Martinez-Castellanos MA, Özdek Ş, Ademola-Popoola D, Reynolds JD, Shah PK, Shapiro M, Stahl A, Toth C, Vinekar A, Visser L, Wallace DK, Wu WC, Zhao P, Zin A
Ophthalmology 2021 Oct;128(10):e51-e68. Epub 2021 Jul 8 doi: 10.1016/j.ophtha.2021.05.031. PMID: 34247850Free PMC Article
Kamalian S, Avery L, Lev MH, Schaefer PW, Curtin HD, Kamalian S
Radiographics 2019 Oct;39(6):1808-1823. doi: 10.1148/rg.2019190159. PMID: 31589568
Deveze A, Matsuda H, Elziere M, Ikezono T
Adv Otorhinolaryngol 2018;81:133-145. Epub 2018 Apr 6 doi: 10.1159/000485579. PMID: 29794455
Malm D, Nilssen Ø
Orphanet J Rare Dis 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. PMID: 18651971Free PMC Article
Rubin SE, Wagner RS
Surv Ophthalmol 1986 May-Jun;30(6):366-76. doi: 10.1016/0039-6257(86)90090-1. PMID: 3523807

Therapy

Hark LA, Horowitz JD, Gorroochurn P, Park L, Wang Q, Diamond DF, Harizman N, Auran JD, Maruri SC, Henriquez DR, Carrion J, Muhire RSM, Kresch YS, Pizzi LT, Jutkowitz E, Sapru S, Sharma T, De Moraes CG, Friedman DS, Liebmann JM, Cioffi GA
Am J Ophthalmol 2023 Jul;251:12-23. Epub 2023 Jan 21 doi: 10.1016/j.ajo.2023.01.019. PMID: 36690289Free PMC Article
Shin TJ, Totten DJ, Tucker BJ, Nelson RF
Otol Neurotol 2022 Jun 1;43(5):547-558. Epub 2022 Mar 2 doi: 10.1097/MAO.0000000000003503. PMID: 35239619
Felding UNA
Dan Med J 2018 Mar;65(3) PMID: 29510812
Kupersmith MJ, Martin V, Heller G, Shah A, Mitnick HJ
Neurology 2004 Mar 9;62(5):686-94. doi: 10.1212/01.wnl.0000113748.53023.b7. PMID: 15007115
Pickrell JA, Oehme FW, Cash WC
Semin Vet Med Surg Small Anim 1993 Feb;8(1):42-9. PMID: 8456203

Prognosis

Rodgers RPC, Levin J
Semin Thromb Hemost 2024 Apr;50(3):499-516. Epub 2023 Dec 12 doi: 10.1055/s-0043-1777307. PMID: 38086409
Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, Koehler KR, El-Amraoui A, Chen Z, Lam BL, Liu X
Ear Hear 2022 Jan/Feb;43(1):1-8. doi: 10.1097/AUD.0000000000001066. PMID: 34039936Free PMC Article
Agius AM, Sama A
Curr Opin Otolaryngol Head Neck Surg 2015 Feb;23(1):15-20. doi: 10.1097/MOO.0000000000000125. PMID: 25514424
Malm D, Nilssen Ø
Orphanet J Rare Dis 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. PMID: 18651971Free PMC Article
Kupersmith MJ, Martin V, Heller G, Shah A, Mitnick HJ
Neurology 2004 Mar 9;62(5):686-94. doi: 10.1212/01.wnl.0000113748.53023.b7. PMID: 15007115

Clinical prediction guides

Rodgers RPC, Levin J
Semin Thromb Hemost 2024 Apr;50(3):499-516. Epub 2023 Dec 12 doi: 10.1055/s-0043-1777307. PMID: 38086409
Sakahara D, Yanaga H, Noto M, Fujimoto T, Imai K
Plast Reconstr Surg 2023 Feb 1;151(2):282e-287e. Epub 2022 Nov 10 doi: 10.1097/PRS.0000000000009854. PMID: 36696327
Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, Koehler KR, El-Amraoui A, Chen Z, Lam BL, Liu X
Ear Hear 2022 Jan/Feb;43(1):1-8. doi: 10.1097/AUD.0000000000001066. PMID: 34039936Free PMC Article
Su Y, Gao X, Huang SS, Mao JN, Huang BQ, Zhao JD, Kang DY, Zhang X, Dai P
BMC Med Genet 2018 Sep 4;19(1):157. doi: 10.1186/s12881-018-0630-9. PMID: 30176854Free PMC Article
Felding UNA
Dan Med J 2018 Mar;65(3) PMID: 29510812

Recent systematic reviews

Stanton E, Kondra K, Brahme I, Lasky S, Munabi NCO, Jimenez C, Jacob L, Urata MM, Hammoudeh JA, Magee WP 3rd
Cleft Palate Craniofac J 2023 Apr;60(4):430-445. Epub 2022 Jan 19 doi: 10.1177/10556656211067901. PMID: 35044261
Chen A, Song J, Acke FRE, Mei L, Cai X, Feng Y, He C
Clin Genet 2021 Jul;100(1):3-13. Epub 2021 Mar 21 doi: 10.1111/cge.13949. PMID: 33624842
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919
von Kirschbaum C, Gürkov R
Biomed Res Int 2016;2016:4980562. Epub 2016 Sep 22 doi: 10.1155/2016/4980562. PMID: 27747231Free PMC Article
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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