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Renal-genital-middle ear anomalies

MedGen UID:
341454
•Concept ID:
C1849432
•
Disease or Syndrome
Synonym: Renal, genital, and middle ear anomalies
 
Monarch Initiative: MONDO:0009969
OMIM®: 267400
Orphanet: ORPHA1092

Clinical features

From HPO
Vaginal atresia
MedGen UID:
232948
•Concept ID:
C1321884
•
Congenital Abnormality
Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.
See: Feature record | Search on this feature
Renal hypoplasia/aplasia
MedGen UID:
387822
•Concept ID:
C1857453
•
Finding
Absence or underdevelopment of the kidney.
See: Feature record | Search on this feature
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature
Abnormality of the middle ear ossicles
MedGen UID:
324579
•Concept ID:
C1836678
•
Finding
An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Clinical Practice Guideline: Tympanostomy Tubes in Children (Update).
Rosenfeld RM, Tunkel DE, Schwartz SR, Anne S, Bishop CE, Chelius DC, Hackell J, Hunter LL, Keppel KL, Kim AH, Kim TW, Levine JM, Maksimoski MT, Moore DJ, Preciado DA, Raol NP, Vaughan WK, Walker EA, Monjur TM
Otolaryngol Head Neck Surg 2022 Feb;166(1_suppl):S1-S55. doi: 10.1177/01945998211065662. PMID: 35138954
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
TFOS DEWS II Management and Therapy Report.
Jones L, Downie LE, Korb D, Benitez-Del-Castillo JM, Dana R, Deng SX, Dong PN, Geerling G, Hida RY, Liu Y, Seo KY, Tauber J, Wakamatsu TH, Xu J, Wolffsohn JS, Craig JP
Ocul Surf 2017 Jul;15(3):575-628. Epub 2017 Jul 20 doi: 10.1016/j.jtos.2017.05.006. PMID: 28736343

Recent clinical studies

Etiology

External Ear Anomalies and Minor Physical Anomalies in Depressive Disorder Patients and Healthy Controls.
Soni PK, Singh LK, Arora RD, Tikka S, Mandal S, Nandan NK, Das S
Prim Care Companion CNS Disord 2023 Jul 20;25(4) doi: 10.4088/PCC.22m03416. PMID: 37471481
Classification and Current Management of Inner Ear Malformations.
Sennaroğlu L, Bajin MD
Balkan Med J 2017 Sep 29;34(5):397-411. Epub 2017 Aug 25 doi: 10.4274/balkanmedj.2017.0367. PMID: 28840850Free PMC Article
Surgical anatomy and pathology of the middle ear.
Luers JC, Hüttenbrink KB
J Anat 2016 Feb;228(2):338-53. Epub 2015 Oct 19 doi: 10.1111/joa.12389. PMID: 26482007Free PMC Article
Microtia: epidemiology and genetics.
Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC
Am J Med Genet A 2012 Jan;158A(1):124-39. Epub 2011 Nov 21 doi: 10.1002/ajmg.a.34352. PMID: 22106030Free PMC Article
The preauricular sinus: a review of its clinical presentation, treatment, and associations.
Scheinfeld NS, Silverberg NB, Weinberg JM, Nozad V
Pediatr Dermatol 2004 May-Jun;21(3):191-6. doi: 10.1111/j.0736-8046.2004.21301.x. PMID: 15165194

Diagnosis

Congenital Anomalies of the Ear Canal.
Morrison D, Kesser B
Otolaryngol Clin North Am 2023 Oct;56(5):933-948. Epub 2023 Aug 1 doi: 10.1016/j.otc.2023.06.007. PMID: 37537101
Auricular reconstruction.
Cubitt JJ, Chang LY, Liang D, Vandervord J, Marucci DD
J Paediatr Child Health 2019 May;55(5):512-517. Epub 2019 Mar 28 doi: 10.1111/jpc.14444. PMID: 30920067
Transtympanic endoscopy for diagnosis of middle ear pathology.
Kakehata S
Otolaryngol Clin North Am 2013 Apr;46(2):227-32. doi: 10.1016/j.otc.2012.10.006. PMID: 23566908
Microtia: epidemiology and genetics.
Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC
Am J Med Genet A 2012 Jan;158A(1):124-39. Epub 2011 Nov 21 doi: 10.1002/ajmg.a.34352. PMID: 22106030Free PMC Article
Otocephaly.
Hwang KS, Ding DC, Chang YK, Chen WH, Chu TY
J Chin Med Assoc 2007 Jul;70(7):298-301. doi: 10.1016/S1726-4901(07)70009-6. PMID: 17631468

Therapy

Performance-optimized otoplasty.
Assis MS, Miranda LS
BMC Surg 2022 May 14;22(1):182. doi: 10.1186/s12893-022-01587-y. PMID: 35568829Free PMC Article
Ear malformations: what do radiologists need to know?
Metwally MI, Alayouty NA, Basha MAA
Clin Imaging 2020 Oct;66:42-53. Epub 2020 Apr 20 doi: 10.1016/j.clinimag.2020.04.022. PMID: 32450482
Meniere's disease.
Nakashima T, Pyykkö I, Arroll MA, Casselbrant ML, Foster CA, Manzoor NF, Megerian CA, Naganawa S, Young YH
Nat Rev Dis Primers 2016 May 12;2:16028. doi: 10.1038/nrdp.2016.28. PMID: 27170253
Otoplasty.
Janis JE, Rohrich RJ, Gutowski KA
Plast Reconstr Surg 2005 Apr;115(4):60e-72e. doi: 10.1097/01.prs.0000156218.93855.c9. PMID: 15793433
Microtia.
Tanzer RC
Clin Plast Surg 1978 Jul;5(3):317-36. PMID: 359217

Prognosis

Multicenter Study of Congenital Middle Ear Anomalies. Report on 246 Ears.
Ito T, Furukawa T, Ohshima S, Takahashi K, Takata Y, Furukawa M, Hiraumi H, Yamauchi D, Yuasa Y, Goto S, Sasaki A, Koizumi K, Otsuki K, Imaizumi M
Laryngoscope 2021 Jul;131(7):E2323-E2328. Epub 2021 Mar 1 doi: 10.1002/lary.29482. PMID: 33645732
Non-surgical correction of cryptotia.
Chia DH, Sim N
J Plast Reconstr Aesthet Surg 2021 Feb;74(2):377-381. Epub 2020 Sep 20 doi: 10.1016/j.bjps.2020.08.133. PMID: 33071167
Management of Congenital Auricular Anomalies.
Joukhadar N, McKee D, Caouette-Laberge L, Bezuhly M
Plast Reconstr Surg 2020 Aug;146(2):205e-216e. doi: 10.1097/PRS.0000000000006997. PMID: 32740598
Treatment of prominent and constricted ear anomalies.
Janz BA, Cole P, Hollier LH Jr, Stal S
Plast Reconstr Surg 2009 Jul;124(1 Suppl):27e-37e. doi: 10.1097/PRS.0b013e3181aa0e9d. PMID: 19568137
Microtia.
Tanzer RC
Clin Plast Surg 1978 Jul;5(3):317-36. PMID: 359217

Clinical prediction guides

Speech performance and subjective satisfaction of middle ear implant in congenital aural atresia.
Alzhrani F, Alhabib SF, Yousef M
Acta Otorhinolaryngol Ital 2022 Apr;42(2):182-188. doi: 10.14639/0392-100X-N1668. PMID: 35612511Free PMC Article
Management of Congenital Auricular Anomalies.
Joukhadar N, McKee D, Caouette-Laberge L, Bezuhly M
Plast Reconstr Surg 2020 Aug;146(2):205e-216e. doi: 10.1097/PRS.0000000000006997. PMID: 32740598
Classification and Current Management of Inner Ear Malformations.
Sennaroğlu L, Bajin MD
Balkan Med J 2017 Sep 29;34(5):397-411. Epub 2017 Aug 25 doi: 10.4274/balkanmedj.2017.0367. PMID: 28840850Free PMC Article
Microtia in the Netherlands: clinical characteristics and associated anomalies.
van Nunen DP, Kolodzynski MN, van den Boogaard MJ, Kon M, Breugem CC
Int J Pediatr Otorhinolaryngol 2014 Jun;78(6):954-9. Epub 2014 Mar 30 doi: 10.1016/j.ijporl.2014.03.024. PMID: 24745583
Treatment of prominent and constricted ear anomalies.
Janz BA, Cole P, Hollier LH Jr, Stal S
Plast Reconstr Surg 2009 Jul;124(1 Suppl):27e-37e. doi: 10.1097/PRS.0b013e3181aa0e9d. PMID: 19568137

Recent systematic reviews

Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis.
Thomas AT, Waite J, Williams CA, Kirk J, Oliver C, Richards C
J Neurodev Disord 2022 Aug 31;14(1):49. doi: 10.1186/s11689-022-09459-5. PMID: 36045324Free PMC Article
Hearing impairment and ear anomalies in craniofacial microsomia: a systematic review.
Rooijers W, Tio PAE, van der Schroeff MP, Padwa BL, Dunaway DJ, Forrest CR, Koudstaal MJ, Caron CJJM
Int J Oral Maxillofac Surg 2022 Oct;51(10):1296-1304. Epub 2022 Feb 3 doi: 10.1016/j.ijom.2022.01.005. PMID: 35125269
Short-term and Long-term Rates of Postacute Sequelae of SARS-CoV-2 Infection: A Systematic Review.
Groff D, Sun A, Ssentongo AE, Ba DM, Parsons N, Poudel GR, Lekoubou A, Oh JS, Ericson JE, Ssentongo P, Chinchilli VM
JAMA Netw Open 2021 Oct 1;4(10):e2128568. doi: 10.1001/jamanetworkopen.2021.28568. PMID: 34643720Free PMC Article
Middle ear congenital cholesteatoma: systematic review, meta-analysis and insights on its pathogenesis.
Gilberto N, Custódio S, Colaço T, Santos R, Sousa P, Escada P
Eur Arch Otorhinolaryngol 2020 Apr;277(4):987-998. Epub 2020 Jan 18 doi: 10.1007/s00405-020-05792-4. PMID: 31955213
Systemic Aminoglycosides-Induced Vestibulotoxicity in Humans.
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

Supplemental Content

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