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Incomplete partition of the cochlea type II

MedGen UID:
892450
Concept ID:
C4025857
Finding
Synonyms: Cochlear malformation defect (Mondini dysplasia); Mondini defect; Mondini dysplasia; Mondini malformation
 
HPO: HP:0000376

Definition

With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Incomplete partition of the cochlea type II

Conditions with this feature

Autosomal recessive nonsyndromic hearing loss 4
MedGen UID:
761234
Concept ID:
C3538946
Disease or Syndrome
Pendred syndrome / nonsyndromic enlarged vestibular aqueduct (PDS/NSEVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL) that is usually congenital and often severe to profound (although mild-to-moderate progressive hearing impairment also occurs), vestibular dysfunction, and temporal bone abnormalities (bilateral enlarged vestibular aqueduct with or without cochlear hypoplasia). PDS also includes development of euthyroid goiter in late childhood to early adulthood whereas NSEVA does not.
Vertebral, cardiac, renal, and limb defects syndrome 1
MedGen UID:
1621146
Concept ID:
C4540004
Disease or Syndrome
Vertebral, cardiac, renal, and limb defects syndrome-1 (VCRL1) is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and mild distal limb defects. Additional features are variable (summary by Shi et al., 2017). Genetic Heterogeneity of Vertebral, Cardiac, Renal, and Limb Defects Syndrome See also VCRL2 (617661), caused by mutation in the KYNU gene (605197) on chromosome 2q22, and VCRL3 (618845), caused by mutation in the NADSYN1 gene (608285) on chromosome 11q13.
Branchiootorenal syndrome 1
MedGen UID:
1632634
Concept ID:
C4551702
Disease or Syndrome
Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.
Meier-Gorlin syndrome 1
MedGen UID:
1641240
Concept ID:
C4552001
Disease or Syndrome
The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011). Genetic Heterogeneity of Meier-Gorlin Syndrome Most forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 (613800), caused by mutation in the ORC4 gene (603056) on chromosome 2q23; Meier-Gorlin syndrome-3 (613803), caused by mutation in the ORC6 gene (607213) on chromosome 16q11; Meier-Gorlin syndrome-4 (613804), caused by mutation in the CDT1 gene (605525) on chromosome 16q24; Meier-Gorlin syndrome-5 (613805), caused by mutation in the CDC6 gene (602627) on chromosome 17q21; Meier-Gorlin syndrome-7 (617063), caused by mutation in the CDC45L gene (603465) on chromosome 22q11; and Meier-Gorlin syndrome-8 (617564), caused by mutation in the MCM5 gene (602696) on chromosome 22q12. An autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 (616835), is caused by mutation in the GMNN gene (602842) on chromosome 6p22.
Hearing loss, autosomal dominant 87
MedGen UID:
1840978
Concept ID:
C5830342
Disease or Syndrome
Autosomal dominant deafness-87 (DFNA87) is characterized by nonsyndromic prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct (Su et al., 2020).

Professional guidelines

PubMed

Gao B, Jiang Y, Huang S, Wang Q, Gao X, Cai J, Dai P
Acta Otolaryngol 2019 Aug;139(8):665-670. Epub 2019 May 24 doi: 10.1080/00016489.2019.1612534. PMID: 31124731

Recent clinical studies

Etiology

Aksoy DÖ, Meltem E, Karagöz Y, Yildirim G, Mahmutoğlu Ö, Mahmutoğlu AS
J Comput Assist Tomogr 2023 Nov-Dec 01;47(6):982-988. Epub 2023 May 26 doi: 10.1097/RCT.0000000000001488. PMID: 37948375
Weiss NM, Breitsprecher TM, Pscheidl A, Bächinger D, Volkenstein S, Dazert S, Mlynski R, Langner S, Roland P, Dhanasingh A
Eur Arch Otorhinolaryngol 2023 May;280(5):2155-2163. Epub 2022 Oct 10 doi: 10.1007/s00405-022-07681-4. PMID: 36216913Free PMC Article
Breitsprecher TM, Pscheidl A, Bächinger D, Volkenstein S, Dhanasingh A, Van Rompaey V, Mlynski R, Dazert S, Van de Heyning P, Langner S, Roland P, Weiss NM
Otol Neurotol 2022 Sep 1;43(8):e814-e819. doi: 10.1097/MAO.0000000000003615. PMID: 35970155
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
Reinshagen KL, Curtin HD, Quesnel AM, Juliano AF
AJNR Am J Neuroradiol 2017 Oct;38(10):2003-2007. Epub 2017 Aug 3 doi: 10.3174/ajnr.A5335. PMID: 28775060Free PMC Article

Diagnosis

Weiss NM, Breitsprecher TM, Pscheidl A, Bächinger D, Volkenstein S, Dazert S, Mlynski R, Langner S, Roland P, Dhanasingh A
Eur Arch Otorhinolaryngol 2023 May;280(5):2155-2163. Epub 2022 Oct 10 doi: 10.1007/s00405-022-07681-4. PMID: 36216913Free PMC Article
Breitsprecher TM, Pscheidl A, Bächinger D, Volkenstein S, Dhanasingh A, Van Rompaey V, Mlynski R, Dazert S, Van de Heyning P, Langner S, Roland P, Weiss NM
Otol Neurotol 2022 Sep 1;43(8):e814-e819. doi: 10.1097/MAO.0000000000003615. PMID: 35970155
Booth TN, Wick C, Clarke R, Kutz JW, Medina M, Gorsage D, Xi Y, Isaacson B
AJNR Am J Neuroradiol 2018 May;39(5):923-927. Epub 2018 Mar 15 doi: 10.3174/ajnr.A5585. PMID: 29545247Free PMC Article
Ahadizadeh E, Ascha M, Manzoor N, Gupta A, Semaan M, Megerian C, Otteson T
Am J Otolaryngol 2017 Nov-Dec;38(6):692-697. Epub 2017 Jun 23 doi: 10.1016/j.amjoto.2017.06.010. PMID: 28793961
Reinshagen KL, Curtin HD, Quesnel AM, Juliano AF
AJNR Am J Neuroradiol 2017 Oct;38(10):2003-2007. Epub 2017 Aug 3 doi: 10.3174/ajnr.A5335. PMID: 28775060Free PMC Article

Therapy

Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S
J Med Genet 2020 Jun;57(6):389-399. Epub 2020 Feb 3 doi: 10.1136/jmedgenet-2019-106474. PMID: 32015000
Bajin MD, Pamuk AE, Pamuk G, Özgen B, Sennaroğlu L
Otol Neurotol 2018 Aug;39(7):e538-e542. doi: 10.1097/MAO.0000000000001871. PMID: 29995007
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
Booth TN, Wick C, Clarke R, Kutz JW, Medina M, Gorsage D, Xi Y, Isaacson B
AJNR Am J Neuroradiol 2018 May;39(5):923-927. Epub 2018 Mar 15 doi: 10.3174/ajnr.A5585. PMID: 29545247Free PMC Article

Prognosis

Khurayzi T, Almuhawas F, Alsanosi A, Abdelsamad Y, Doyle Ú, Dhanasingh A
Sci Rep 2021 Apr 1;11(1):7339. doi: 10.1038/s41598-021-86741-x. PMID: 33795738Free PMC Article
Ahadizadeh E, Ascha M, Manzoor N, Gupta A, Semaan M, Megerian C, Otteson T
Am J Otolaryngol 2017 Nov-Dec;38(6):692-697. Epub 2017 Jun 23 doi: 10.1016/j.amjoto.2017.06.010. PMID: 28793961
Kontorinis G, Goetz F, Giourgas A, Lenarz T, Lanfermann H, Giesemann AM
Eur Radiol 2012 Mar;22(3):525-32. Epub 2011 Oct 1 doi: 10.1007/s00330-011-2301-5. PMID: 21965038
Song JJ, Choi HG, Oh SH, Chang SO, Kim CS, Lee JH
Otol Neurotol 2009 Aug;30(5):604-8. doi: 10.1097/MAO.0b013e3181ab9185. PMID: 19546828
Sennaroglu L, Sarac S, Ergin T
Otol Neurotol 2006 Aug;27(5):615-23. doi: 10.1097/01.mao.0000224090.94882.b4. PMID: 16788416

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
Khurayzi T, Almuhawas F, Alsanosi A, Abdelsamad Y, Doyle Ú, Dhanasingh A
Sci Rep 2021 Apr 1;11(1):7339. doi: 10.1038/s41598-021-86741-x. PMID: 33795738Free PMC Article
Ahadizadeh E, Ascha M, Manzoor N, Gupta A, Semaan M, Megerian C, Otteson T
Am J Otolaryngol 2017 Nov-Dec;38(6):692-697. Epub 2017 Jun 23 doi: 10.1016/j.amjoto.2017.06.010. PMID: 28793961
Reinshagen KL, Curtin HD, Quesnel AM, Juliano AF
AJNR Am J Neuroradiol 2017 Oct;38(10):2003-2007. Epub 2017 Aug 3 doi: 10.3174/ajnr.A5335. PMID: 28775060Free PMC Article
Loos E, Verhaert N, Willaert A, Devriendt K, Swillen A, Hermans R, Op de Beeck K, Hens G
Am J Med Genet A 2016 Nov;170(11):2975-2983. Epub 2016 Sep 8 doi: 10.1002/ajmg.a.37872. PMID: 27604838

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