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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

Feenstra HMA, van Dijk EHC, Cheung CMG, Ohno-Matsui K, Lai TYY, Koizumi H, Larsen M, Querques G, Downes SM, Yzer S, Breazzano MP, Subhi Y, Tadayoni R, Priglinger SG, Pauleikhoff LJB, Lange CAK, Loewenstein A, Diederen RMH, Schlingemann RO, Hoyng CB, Chhablani JK, Holz FG, Sivaprasad S, Lotery AJ, Yannuzzi LA, Freund KB, Boon CJF
Prog Retin Eye Res 2024 Jul;101:101236. Epub 2024 Feb 1 doi: 10.1016/j.preteyeres.2024.101236. PMID: 38301969
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
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

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
Susanna FN, Melchior B, Paula JS, Boland MV, Myers JS, Wellik SR, Elze T, Pasquale LR, Shen LQ, Ritch R, Susanna R, Hood DC, Liebmann JM, De Moraes CG
Ophthalmol Glaucoma 2021 Nov-Dec;4(6):617-623. Epub 2021 Apr 20 doi: 10.1016/j.ogla.2021.04.004. PMID: 33848653
Baumal CR, Sarraf D, Bryant T, Gui W, Muakkassa N, Pichi F, Querques G, Choudhry N, Teke MY, Govetto A, Invernizzi A, Eliott D, Gaudric A, Cunha de Souza E, Naysan J, Lembo A, Lee GC, Freund KB
Br J Ophthalmol 2021 Mar;105(3):374-380. Epub 2020 May 6 doi: 10.1136/bjophthalmol-2019-315443. PMID: 32376610
Distinguin L, Simon F, Alvin F, Couloigner V, Leboulanger N, Garabédian N, Loundon N, Denoyelle F
Otol Neurotol 2020 Oct;41(9):e1128-e1132. doi: 10.1097/MAO.0000000000002761. PMID: 32925851

Diagnosis

Feenstra HMA, van Dijk EHC, Cheung CMG, Ohno-Matsui K, Lai TYY, Koizumi H, Larsen M, Querques G, Downes SM, Yzer S, Breazzano MP, Subhi Y, Tadayoni R, Priglinger SG, Pauleikhoff LJB, Lange CAK, Loewenstein A, Diederen RMH, Schlingemann RO, Hoyng CB, Chhablani JK, Holz FG, Sivaprasad S, Lotery AJ, Yannuzzi LA, Freund KB, Boon CJF
Prog Retin Eye Res 2024 Jul;101:101236. Epub 2024 Feb 1 doi: 10.1016/j.preteyeres.2024.101236. PMID: 38301969
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
Li Y, Rui X, Li N
Paediatr Respir Rev 2020 Feb;33:24-27. Epub 2019 Oct 8 doi: 10.1016/j.prrv.2019.09.004. PMID: 31734186
Glaser B
Pediatr Endocrinol Rev 2003 Dec;1 Suppl 2:199-204; discussion 204. PMID: 16444159
Maher ER, Kaelin WG Jr
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Therapy

Feenstra HMA, van Dijk EHC, Cheung CMG, Ohno-Matsui K, Lai TYY, Koizumi H, Larsen M, Querques G, Downes SM, Yzer S, Breazzano MP, Subhi Y, Tadayoni R, Priglinger SG, Pauleikhoff LJB, Lange CAK, Loewenstein A, Diederen RMH, Schlingemann RO, Hoyng CB, Chhablani JK, Holz FG, Sivaprasad S, Lotery AJ, Yannuzzi LA, Freund KB, Boon CJF
Prog Retin Eye Res 2024 Jul;101:101236. Epub 2024 Feb 1 doi: 10.1016/j.preteyeres.2024.101236. PMID: 38301969
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
Susanna FN, Melchior B, Paula JS, Boland MV, Myers JS, Wellik SR, Elze T, Pasquale LR, Shen LQ, Ritch R, Susanna R, Hood DC, Liebmann JM, De Moraes CG
Ophthalmol Glaucoma 2021 Nov-Dec;4(6):617-623. Epub 2021 Apr 20 doi: 10.1016/j.ogla.2021.04.004. PMID: 33848653
Cugno S, Bulstrode NW
J Plast Reconstr Aesthet Surg 2019 Mar;72(3):498-504. Epub 2018 Nov 28 doi: 10.1016/j.bjps.2018.11.006. PMID: 30528282
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

Prognosis

Chanclud J, Valence S, Perre SV, Guilbaud L, Moutard ML, Jouannic JM, Ducou Le Pointe H, Blondiaux E, Garel C
Pediatr Radiol 2023 Mar;53(3):461-469. Epub 2022 Oct 24 doi: 10.1007/s00247-022-05531-3. PMID: 36274068
Liu J, Dong J, Li P, Duan W
Int J Pediatr Otorhinolaryngol 2021 Aug;147:110765. Epub 2021 May 11 doi: 10.1016/j.ijporl.2021.110765. PMID: 34058530
Zamariolli M, Colovati M, Moysés-Oliveira M, Nunes N, Caires Dos Santos L, Alvarez Perez AB, Bragagnolo S, Melaragno MI
Mol Genet Genomic Med 2019 Oct;7(10):e00959. Epub 2019 Aug 30 doi: 10.1002/mgg3.959. PMID: 31469246Free 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

Clinical prediction guides

Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R
Brain 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. PMID: 37951597Free PMC Article
Zamariolli M, Colovati M, Moysés-Oliveira M, Nunes N, Caires Dos Santos L, Alvarez Perez AB, Bragagnolo S, Melaragno MI
Mol Genet Genomic Med 2019 Oct;7(10):e00959. Epub 2019 Aug 30 doi: 10.1002/mgg3.959. PMID: 31469246Free PMC Article
Benboujja F, Hartnick C
Int J Pediatr Otorhinolaryngol 2018 Nov;114:111-119. Epub 2018 Aug 31 doi: 10.1016/j.ijporl.2018.08.036. PMID: 30262347
Honrubia V, Baloh RW, Harris MR, Jacobson KM
Am J Otol 1999 Jul;20(4):465-70. PMID: 10431888
Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P
Am J Med Genet 1995 Mar 13;56(1):42-59. doi: 10.1002/ajmg.1320560112. PMID: 7747785

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
Hollander JJ, Dusoswa QF, Dahmen J, Sullivan N, Kerkhoffs GMMJ, Stufkens SAS
Foot Ankle Surg 2022 Oct;28(7):1110-1119. Epub 2022 Mar 24 doi: 10.1016/j.fas.2022.03.011. PMID: 35397990
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

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