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Aplasia of the semicircular canal

MedGen UID:
868971
Concept ID:
C4023385
Anatomical Abnormality
Synonym: Absent semicircular canal
 
HPO: HP:0011381

Definition

Absence of the semicircular canal. [from HPO]

Term Hierarchy

Conditions with this feature

CHARGE association
MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.
Waardenburg syndrome type 2E
MedGen UID:
398476
Concept ID:
C2700405
Disease or Syndrome
Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E, which is caused by mutation in the SOX10 gene (602229), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).

Recent clinical studies

Etiology

Kimura Y, Kaga K
Int J Pediatr Otorhinolaryngol 2022 Nov;162:111303. Epub 2022 Sep 15 doi: 10.1016/j.ijporl.2022.111303. PMID: 36137473
Zainol Abidin Z, Mohd Zaki F, Kew TY, Goh BS, Abdullah A
J Laryngol Otol 2020 Jul;134(7):603-609. Epub 2020 Jul 27 doi: 10.1017/S0022215120001334. PMID: 32713375
Berning AW, Arani K, Branstetter BF 4th
AJNR Am J Neuroradiol 2019 Apr;40(4):709-712. Epub 2019 Feb 28 doi: 10.3174/ajnr.A5999. PMID: 30819770Free PMC Article
Fujiwara K, Yanagi H, Morita S, Hoshino K, Fukuda A, Nakamaru Y, Homma A
Ann Otol Rhinol Laryngol 2019 Feb;128(2):113-120. Epub 2018 Oct 26 doi: 10.1177/0003489418808545. PMID: 30360640
Bom Braga GP, Noble JH, Gebrim EMMS, Labadie RF, Bento RF
Acta Otolaryngol 2018 May;138(5):437-442. Epub 2017 Dec 22 doi: 10.1080/00016489.2017.1416169. PMID: 29272988

Diagnosis

Kimura Y, Kaga K
Int J Pediatr Otorhinolaryngol 2022 Nov;162:111303. Epub 2022 Sep 15 doi: 10.1016/j.ijporl.2022.111303. PMID: 36137473
Tawfik KO, Leader BA, Walters ZA, Choo DI
Otolaryngol Head Neck Surg 2019 Jun;160(6):1095-1100. Epub 2019 Jan 22 doi: 10.1177/0194599818824306. PMID: 30667318
Wineland A, Menezes MD, Shimony JS, Shinawi MS, Hullar TE, Hirose K
JAMA Otolaryngol Head Neck Surg 2017 Feb 1;143(2):168-177. doi: 10.1001/jamaoto.2016.3175. PMID: 27832265
Michel G, Espitalier F, Delemazure AS, Bordure P
Eur Ann Otorhinolaryngol Head Neck Dis 2016 Jun;133(3):199-201. Epub 2015 Sep 18 doi: 10.1016/j.anorl.2015.09.002. PMID: 26387614
Zhang Q, Kaga K, Takegoshi H, Matsuda T
Int J Pediatr Otorhinolaryngol 2014 Mar;78(3):554-7. Epub 2014 Jan 10 doi: 10.1016/j.ijporl.2013.12.002. PMID: 24480121

Therapy

Eliezer M, Maquet C, Horion J, Gillibert A, Toupet M, Bolognini B, Magne N, Kahn L, Hautefort C, Attyé A
Eur Radiol 2019 Jun;29(6):2760-2769. Epub 2018 Nov 9 doi: 10.1007/s00330-018-5825-0. PMID: 30413960
Garaycochea O, Domínguez PD, Manrique M, Manrique-Huarte R
J Int Adv Otol 2018 Aug;14(2):334-336. doi: 10.5152/iao.2018.5089. PMID: 30256207Free PMC Article
Yilmaz N, Ila K, Soylemez E, Ozdek A
Eur Arch Otorhinolaryngol 2018 Nov;275(11):2659-2665. Epub 2018 Sep 14 doi: 10.1007/s00405-018-5125-y. PMID: 30218385
Verheij E, Elden L, Crowley TB, Pameijer FA, Zackai EH, McDonald-McGinn DM, Thomeer HGXM
AJNR Am J Neuroradiol 2018 May;39(5):928-934. Epub 2018 Mar 15 doi: 10.3174/ajnr.A5588. PMID: 29545254Free PMC Article
Naganawa S, Kawai H, Sone M, Ikeda M
Magn Reson Med Sci 2015;14(3):203-10. Epub 2015 Mar 31 doi: 10.2463/mrms.2014-0112. PMID: 25833266

Prognosis

Lee JA, Liu YF, Nguyen SA, McRackan TR, Meyer TA, Rizk HG
Otol Neurotol 2020 Apr;41(4):511-521. doi: 10.1097/MAO.0000000000002576. PMID: 32176140
Duman IS, Dogan SN
J Comput Assist Tomogr 2020 Jan/Feb;44(1):53-58. doi: 10.1097/RCT.0000000000000957. PMID: 31939882
Jacky Chen CH, Nguyen T, Udawatta M, Duong C, Romiyo P, Sheppard JP, Gopen Q, Yang I
World Neurosurg 2019 Jun;126:e1549-e1552. Epub 2019 Mar 28 doi: 10.1016/j.wneu.2019.03.205. PMID: 30928582
Beyazal Çeliker F, Özgür A, Çeliker M, Beyazal M, Turan A, Terzi S, İnecikli MF
J Int Adv Otol 2018 Apr;14(1):68-71. Epub 2017 Dec 14 doi: 10.5152/iao.2017.4103. PMID: 29283100Free PMC Article
Loke SC, Goh JP
Br J Radiol 2009 May;82(977):371-3. Epub 2008 Dec 19 doi: 10.1259/bjr/32471003. PMID: 19098078

Clinical prediction guides

Kimura Y, Kaga K
Int J Pediatr Otorhinolaryngol 2022 Nov;162:111303. Epub 2022 Sep 15 doi: 10.1016/j.ijporl.2022.111303. PMID: 36137473
Musat GC, Musat AAM
Ear Nose Throat J 2021 Sep;100(5_suppl):636S-640S. Epub 2020 Jan 20 doi: 10.1177/0145561319897983. PMID: 31955602
Choi B, Lee DH, Shin JE, Kim CH
Acta Otolaryngol 2020 Dec;140(12):971-976. Epub 2020 Aug 18 doi: 10.1080/00016489.2020.1804615. PMID: 32808842
Venkatasamy A, Foll DL, Eyermann C, Vuong H, Rohmer D, Charpiot A, Veillon F
Eur Arch Otorhinolaryngol 2019 Apr;276(4):1029-1034. Epub 2019 Feb 6 doi: 10.1007/s00405-019-05294-y. PMID: 30725208
Beyazal Çeliker F, Özgür A, Çeliker M, Beyazal M, Turan A, Terzi S, İnecikli MF
J Int Adv Otol 2018 Apr;14(1):68-71. Epub 2017 Dec 14 doi: 10.5152/iao.2017.4103. PMID: 29283100Free PMC Article

Recent systematic reviews

Lee JA, Liu YF, Nguyen SA, McRackan TR, Meyer TA, Rizk HG
Otol Neurotol 2020 Apr;41(4):511-521. doi: 10.1097/MAO.0000000000002576. PMID: 32176140
Bom Braga GP, Noble JH, Gebrim EMMS, Labadie RF, Bento RF
Acta Otolaryngol 2018 May;138(5):437-442. Epub 2017 Dec 22 doi: 10.1080/00016489.2017.1416169. PMID: 29272988
Van Hecke R, Van Rompaey V, Wuyts FL, Leyssens L, Maes L
Ear Hear 2017 Nov/Dec;38(6):653-662. doi: 10.1097/AUD.0000000000000458. PMID: 28650850
Lagman C, Ong V, Chung LK, Elhajjmoussa L, Fong C, Wang AC, Gopen Q, Yang I
J Neurosurg Pediatr 2017 Aug;20(2):196-203. Epub 2017 May 26 doi: 10.3171/2017.3.PEDS1734. PMID: 28548616

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