U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cochlear aplasia

MedGen UID:
868976
Concept ID:
C4023390
Congenital Abnormality; Finding
Synonym: Absent cochleae
 
HPO: HP:0011375

Definition

Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. [from HPO]

Term Hierarchy

Conditions with this feature

Hearing loss, autosomal dominant 80
MedGen UID:
1779667
Concept ID:
C5543289
Disease or Syndrome
DFNA80 is characterized by nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves (Schrauwen et al., 2018; Schrauwen et al., 2020).
Hearing loss, autosomal recessive 118, with cochlear aplasia
MedGen UID:
1794206
Concept ID:
C5561996
Disease or Syndrome
DFNB118 is characterized by congenital profound sensorineural hearing loss and cochlear aplasia (Bademci et al., 2020).

Professional guidelines

PubMed

Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Michels TC, Duffy MT, Rogers DJ
Am Fam Physician 2019 Jul 15;100(2):98-108. PMID: 31305044
Freeman SR, Sennaroglu L
Adv Otorhinolaryngol 2018;81:81-92. Epub 2018 Apr 6 doi: 10.1159/000485542. PMID: 29794457

Recent clinical studies

Etiology

Bächinger D, Breitsprecher TM, Pscheidl A, Dhanasingh A, Mlynski R, Dazert S, Langner S, Weiss NM
Eur Arch Otorhinolaryngol 2023 May;280(5):2149-2154. Epub 2022 Oct 9 doi: 10.1007/s00405-022-07676-1. PMID: 36210370Free PMC Article
Kaya Ş, Çiçek Çınar B, Özbal Batuk M, Özgen B, Sennaroğlu G, Genç GA, Sennaroğlu L
Auris Nasus Larynx 2020 Apr;47(2):220-226. Epub 2019 Sep 17 doi: 10.1016/j.anl.2019.09.001. PMID: 31540740
Monsanto RDC, Sennaroglu L, Uchiyama M, Sancak IG, Paparella MM, Cureoglu S
Otol Neurotol 2019 Sep;40(8):e839-e846. doi: 10.1097/MAO.0000000000002356. PMID: 31361687Free PMC Article
Saikawa E, Takano K, Ogasawara N, Tsubomatsu C, Takahashi N, Shirasaki H, Himi T
Adv Otorhinolaryngol 2016;77:7-11. Epub 2016 Apr 26 doi: 10.1159/000441859. PMID: 27115156
Jeong SW, Kim LS
Acta Otolaryngol 2012 Sep;132(9):910-5. Epub 2012 Jun 12 doi: 10.3109/00016489.2012.675627. PMID: 22690949

Diagnosis

Bächinger D, Breitsprecher TM, Pscheidl A, Dhanasingh A, Mlynski R, Dazert S, Langner S, Weiss NM
Eur Arch Otorhinolaryngol 2023 May;280(5):2149-2154. Epub 2022 Oct 9 doi: 10.1007/s00405-022-07676-1. PMID: 36210370Free PMC Article
Weiss NM, Langner S, Mlynski R, Roland P, Dhanasingh A
Laryngoscope 2021 Feb;131(2):386-391. Epub 2020 Apr 4 doi: 10.1002/lary.28640. PMID: 32246777
Kaya Ş, Çiçek Çınar B, Özbal Batuk M, Özgen B, Sennaroğlu G, Genç GA, Sennaroğlu L
Auris Nasus Larynx 2020 Apr;47(2):220-226. Epub 2019 Sep 17 doi: 10.1016/j.anl.2019.09.001. PMID: 31540740
Mazón M, Pont E, Montoya-Filardi A, Carreres-Polo J, Más-Estellés F
Radiologia 2017 Jul-Aug;59(4):297-305. Epub 2016 Dec 29 doi: 10.1016/j.rx.2016.09.009. PMID: 28040203
Pont E, Mazón M, Montesinos P, Sánchez MÁ, Más-Estellés F
Acta Otorrinolaringol Esp 2015 Jul-Aug;66(4):224-33. Epub 2014 Oct 12 doi: 10.1016/j.otorri.2014.07.002. PMID: 25312404

Therapy

Monsanto RDC, Sennaroglu L, Uchiyama M, Sancak IG, Paparella MM, Cureoglu S
Otol Neurotol 2019 Sep;40(8):e839-e846. doi: 10.1097/MAO.0000000000002356. PMID: 31361687Free PMC Article
Wilkinson EP, Eisenberg LS, Krieger MD, Schwartz MS, Winter M, Glater JL, Martinez AS, Fisher LM, Shannon RV; Los Angeles Pediatric ABI Team
Otol Neurotol 2017 Feb;38(2):212-220. doi: 10.1097/MAO.0000000000001287. PMID: 27898605Free PMC Article

Prognosis

Monsanto RDC, Sennaroglu L, Uchiyama M, Sancak IG, Paparella MM, Cureoglu S
Otol Neurotol 2019 Sep;40(8):e839-e846. doi: 10.1097/MAO.0000000000002356. PMID: 31361687Free PMC Article
Raghunandhan S, Madhav K, Senthilvadivu A, Natarajan K, Kameswaran M
Eur Ann Otorhinolaryngol Head Neck Dis 2019 Jun;136(3S):S9-S14. Epub 2018 Oct 4 doi: 10.1016/j.anorl.2018.08.015. PMID: 30293957
Mazón M, Pont E, Montoya-Filardi A, Carreres-Polo J, Más-Estellés F
Radiologia 2017 Jul-Aug;59(4):297-305. Epub 2016 Dec 29 doi: 10.1016/j.rx.2016.09.009. PMID: 28040203
Saikawa E, Takano K, Ogasawara N, Tsubomatsu C, Takahashi N, Shirasaki H, Himi T
Adv Otorhinolaryngol 2016;77:7-11. Epub 2016 Apr 26 doi: 10.1159/000441859. PMID: 27115156
Jeong SW, Kim LS
Acta Otolaryngol 2012 Sep;132(9):910-5. Epub 2012 Jun 12 doi: 10.3109/00016489.2012.675627. PMID: 22690949

Clinical prediction guides

Garcia A, Haleem A, Poe S, Gosh D, Christian Brown M, Herrmann BS, Lee DJ
Otolaryngol Head Neck Surg 2024 Jun;170(6):1648-1658. Epub 2024 Feb 8 doi: 10.1002/ohn.662. PMID: 38329219
Hota BP, Behera SK, Karakkandy V, Chappity P
BMJ Case Rep 2023 Aug 17;16(8) doi: 10.1136/bcr-2022-253079. PMID: 37591623Free PMC Article
Kim BJ, Jeon H, Kim Y, Lee SY, Han JH, Yi N, Chung JW, Oh SH, Choi BY
Clin Otolaryngol 2022 Sep;47(5):599-605. Epub 2022 Jun 14 doi: 10.1111/coa.13952. PMID: 35653220
Raghunandhan S, Madhav K, Senthilvadivu A, Natarajan K, Kameswaran M
Eur Ann Otorhinolaryngol Head Neck Dis 2019 Jun;136(3S):S9-S14. Epub 2018 Oct 4 doi: 10.1016/j.anorl.2018.08.015. PMID: 30293957
Jiang ZY, Odiase E, Isaacson B, Roland PS, Kutz JW Jr
Otol Neurotol 2014 Oct;35(9):1533-5. doi: 10.1097/MAO.0000000000000453. PMID: 24892366

Recent systematic reviews

Garcia A, Haleem A, Poe S, Gosh D, Christian Brown M, Herrmann BS, Lee DJ
Otolaryngol Head Neck Surg 2024 Jun;170(6):1648-1658. Epub 2024 Feb 8 doi: 10.1002/ohn.662. PMID: 38329219
Merkus P, Di Lella F, Di Trapani G, Pasanisi E, Beltrame MA, Zanetti D, Negri M, Sanna M
Eur Arch Otorhinolaryngol 2014 Jan;271(1):3-13. Epub 2013 Feb 13 doi: 10.1007/s00405-013-2378-3. PMID: 23404468

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...