U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Aplasia/Hypoplasia of the ear

MedGen UID:
870193
•Concept ID:
C4024627
•
Finding
Synonyms: Absent/small ear; Absent/underdeveloped ear
 
HPO: HP:0008771

Definition

The presence of aplasia or developmental hypoplasia of the ear. [from HPO]

Professional guidelines

PubMed

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Eur J Hum Genet 2012 Jun;20(6):598-606. Epub 2012 Feb 15 doi: 10.1038/ejhg.2011.269. PMID: 22333897Free PMC Article

Recent clinical studies

Etiology

Etiology and therapy indication for cochlear implantation in children with single-sided deafness : Retrospective analysis.
Cushing SL, Gordon KA, Sokolov M, Papaioannou V, Polonenko M, Papsin BC
HNO 2019 Oct;67(10):750-759. doi: 10.1007/s00106-019-00729-8. PMID: 31478064
Cochlear Implant Outcomes in Cochlea Nerve Aplasia and Hypoplasia.
Birman CS, Powell HR, Gibson WP, Elliott EJ
Otol Neurotol 2016 Jun;37(5):438-45. doi: 10.1097/MAO.0000000000000997. PMID: 27050647
Ratio of Vestibular Endolymph in Patients with Isolated Lateral Semicircular Canal Dysplasia.
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
Auditory brainstem implant candidacy in the United States in children 0-17 years old.
Kaplan AB, Kozin ED, Puram SV, Owoc MS, Shah PV, Hight AE, Sethi RKV, Remenschneider AK, Lee DJ
Int J Pediatr Otorhinolaryngol 2015 Mar;79(3):310-315. Epub 2014 Dec 15 doi: 10.1016/j.ijporl.2014.11.023. PMID: 25577282Free PMC Article
The vestibulocochlear nerve: aplasia and hypoplasia in combination with inner ear malformations.
Giesemann AM, Kontorinis G, Jan Z, Lenarz T, Lanfermann H, Goetz F
Eur Radiol 2012 Mar;22(3):519-24. Epub 2011 Sep 30 doi: 10.1007/s00330-011-2287-z. PMID: 21960158

Diagnosis

Vestibular function in children with vestibulocochlear nerve aplasia/hypoplasia.
Karpeta N, Asp F, Edholm K, Bonnard Å, Wales J, Karltorp E, Duan M, Verrecchia L
Acta Otolaryngol 2023 Oct;143(10):861-866. Epub 2024 Jan 5 doi: 10.1080/00016489.2023.2285453. PMID: 38063358
Developmental unilateral facial palsy in a newborn: six cases and literature review.
Decraene L, Boudewyns A, Venstermans C, Ceulemans B
Eur J Pediatr 2020 Mar;179(3):367-375. Epub 2020 Jan 27 doi: 10.1007/s00431-019-03484-8. PMID: 31989259
Radiological Imaging Findings of Patients with Congenital Totally Hearing Loss.
Dağkıran M, Dağkıran N, Sürmelioğlu Ö, Ballı T, Tuncer Ü, Akgül E, Çetik F
J Int Adv Otol 2016 Apr;12(1):43-8. doi: 10.5152/iao.2015.1450. PMID: 27340982
Ratio of Vestibular Endolymph in Patients with Isolated Lateral Semicircular Canal Dysplasia.
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
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Am J Med Genet A 2012 Nov;158A(11):2733-42. Epub 2012 Sep 28 doi: 10.1002/ajmg.a.35681. PMID: 23023959

Therapy

Developmental unilateral facial palsy in a newborn: six cases and literature review.
Decraene L, Boudewyns A, Venstermans C, Ceulemans B
Eur J Pediatr 2020 Mar;179(3):367-375. Epub 2020 Jan 27 doi: 10.1007/s00431-019-03484-8. PMID: 31989259
Ratio of Vestibular Endolymph in Patients with Isolated Lateral Semicircular Canal Dysplasia.
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
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Am J Med Genet A 2012 Nov;158A(11):2733-42. Epub 2012 Sep 28 doi: 10.1002/ajmg.a.35681. PMID: 23023959

Prognosis

Vestibular function in children with vestibulocochlear nerve aplasia/hypoplasia.
Karpeta N, Asp F, Edholm K, Bonnard Å, Wales J, Karltorp E, Duan M, Verrecchia L
Acta Otolaryngol 2023 Oct;143(10):861-866. Epub 2024 Jan 5 doi: 10.1080/00016489.2023.2285453. PMID: 38063358
Developmental unilateral facial palsy in a newborn: six cases and literature review.
Decraene L, Boudewyns A, Venstermans C, Ceulemans B
Eur J Pediatr 2020 Mar;179(3):367-375. Epub 2020 Jan 27 doi: 10.1007/s00431-019-03484-8. PMID: 31989259
Bimodal stimulation in children with inner ear malformation: One side cochlear implant and contralateral auditory brainstem implant.
Batuk MO, Cinar BC, Yarali M, Aslan F, Ozkan HB, Sennaroglu G, Yucel E, Bajin MD, Bilginer B, Sennaroglu L
Clin Otolaryngol 2020 Mar;45(2):231-238. Epub 2020 Jan 22 doi: 10.1111/coa.13499. PMID: 31854074
Etiology and therapy indication for cochlear implantation in children with single-sided deafness : Retrospective analysis.
Cushing SL, Gordon KA, Sokolov M, Papaioannou V, Polonenko M, Papsin BC
HNO 2019 Oct;67(10):750-759. doi: 10.1007/s00106-019-00729-8. PMID: 31478064
Radiological Imaging Findings of Patients with Congenital Totally Hearing Loss.
Dağkıran M, Dağkıran N, Sürmelioğlu Ö, Ballı T, Tuncer Ü, Akgül E, Çetik F
J Int Adv Otol 2016 Apr;12(1):43-8. doi: 10.5152/iao.2015.1450. PMID: 27340982

Clinical prediction guides

Vestibular function in children with vestibulocochlear nerve aplasia/hypoplasia.
Karpeta N, Asp F, Edholm K, Bonnard Å, Wales J, Karltorp E, Duan M, Verrecchia L
Acta Otolaryngol 2023 Oct;143(10):861-866. Epub 2024 Jan 5 doi: 10.1080/00016489.2023.2285453. PMID: 38063358
Bimodal stimulation in children with inner ear malformation: One side cochlear implant and contralateral auditory brainstem implant.
Batuk MO, Cinar BC, Yarali M, Aslan F, Ozkan HB, Sennaroglu G, Yucel E, Bajin MD, Bilginer B, Sennaroglu L
Clin Otolaryngol 2020 Mar;45(2):231-238. Epub 2020 Jan 22 doi: 10.1111/coa.13499. PMID: 31854074
Etiology and therapy indication for cochlear implantation in children with single-sided deafness : Retrospective analysis.
Cushing SL, Gordon KA, Sokolov M, Papaioannou V, Polonenko M, Papsin BC
HNO 2019 Oct;67(10):750-759. doi: 10.1007/s00106-019-00729-8. PMID: 31478064
Radiological Imaging Findings of Patients with Congenital Totally Hearing Loss.
Dağkıran M, Dağkıran N, Sürmelioğlu Ö, Ballı T, Tuncer Ü, Akgül E, Çetik F
J Int Adv Otol 2016 Apr;12(1):43-8. doi: 10.5152/iao.2015.1450. PMID: 27340982
Cochlear Implant Outcomes in Cochlea Nerve Aplasia and Hypoplasia.
Birman CS, Powell HR, Gibson WP, Elliott EJ
Otol Neurotol 2016 Jun;37(5):438-45. doi: 10.1097/MAO.0000000000000997. PMID: 27050647

Recent systematic reviews

Auditory brainstem implant candidacy in the United States in children 0-17 years old.
Kaplan AB, Kozin ED, Puram SV, Owoc MS, Shah PV, Hight AE, Sethi RKV, Remenschneider AK, Lee DJ
Int J Pediatr Otorhinolaryngol 2015 Mar;79(3):310-315. Epub 2014 Dec 15 doi: 10.1016/j.ijporl.2014.11.023. PMID: 25577282Free PMC Article

Supplemental Content

Table of contents

    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.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...