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Aplasia/Hypoplasia of the middle ear

MedGen UID:
867171
•Concept ID:
C4021529
•
Finding
Synonyms: Absent/small middle ear; Absent/underdeveloped middle ear; Hypoplastic/aplastic middle ear structures; Middle ear hypoplasia/aplasia
 
HPO: HP:0008773

Definition

Aplasia or developmental hypoplasia of all or part of the middle ear. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia/Hypoplasia of the middle ear

Conditions with this feature

Microtia with meatal atresia and conductive deafness
MedGen UID:
419093
•Concept ID:
C2931502
•
Disease or Syndrome
See: Condition Record
Atresia of external auditory canal and conductive deafness
MedGen UID:
502760
•Concept ID:
C3502361
•
Disease or Syndrome
See: Condition Record
Atresia of external auditory canal and conductive deafness
Microtia with meatal atresia and conductive deafness

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

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 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

Diagnosis

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 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

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

Prognosis

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

Clinical prediction guides

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

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