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Mild hearing impairment

MedGen UID:
868364
Concept ID:
C4022758
Finding
Synonym: Hearing impairment, mild
 
HPO: HP:0012712

Definition

The presence of a mild form of hearing impairment. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Mild hearing impairment

Conditions with this feature

Cholestasis-pigmentary retinopathy-cleft palate syndrome
MedGen UID:
208652
Concept ID:
C0795969
Disease or Syndrome
MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.
Acrofacial dysostosis Cincinnati type
MedGen UID:
903483
Concept ID:
C4225317
Disease or Syndrome
The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).

Professional guidelines

PubMed

Bartsch O, Vatter A, Zechner U, Kohlschmidt N, Wetzig C, Baumgart A, Nospes S, Haaf T, Keilmann A
Audiol Neurootol 2010;15(6):375-82. Epub 2010 Mar 17 doi: 10.1159/000297216. PMID: 20234132
Jenkins V, Low R, Mitra S
Breast 2009 Oct;18(5):279-83. Epub 2009 Aug 14 doi: 10.1016/j.breast.2009.07.004. PMID: 19683445

Recent clinical studies

Etiology

Wu F, Zhou C
Am J Alzheimers Dis Other Demen 2024 Jan-Dec;39:15333175241227318. doi: 10.1177/15333175241227318. PMID: 38198589Free PMC Article
Douglas RS, Kahaly GJ, Ugradar S, Elflein H, Ponto KA, Fowler BT, Dailey R, Harris GJ, Schiffman J, Tang R, Wester S, Jain AP, Marcocci C, Marinò M, Antonelli A, Eckstein A, Führer-Sakel D, Salvi M, Sile S, Francis-Sedlak M, Holt RJ, Smith TJ
Ophthalmology 2022 Apr;129(4):438-449. Epub 2021 Oct 21 doi: 10.1016/j.ophtha.2021.10.017. PMID: 34688699
Alattar AA, Bergstrom J, Laughlin GA, Kritz-Silverstein D, Richard EL, Reas ET, Harris JP, Barrett-Connor E, McEvoy LK
J Gerontol A Biol Sci Med Sci 2020 Feb 14;75(3):567-573. doi: 10.1093/gerona/glz035. PMID: 30753308Free PMC Article
Timmer BHB, Hickson L, Launer S
J Am Acad Audiol 2017 Sep;28(8):731-741. doi: 10.3766/jaaa.16104. PMID: 28906244
Contrera KJ, Betz J, Deal J, Choi JS, Ayonayon HN, Harris T, Helzner E, Martin KR, Mehta K, Pratt S, Rubin SM, Satterfield S, Yaffe K, Simonsick EM, Lin FR; Health ABC Study
J Aging Health 2017 Feb;29(1):172-184. Epub 2016 Jul 8 doi: 10.1177/0898264316634571. PMID: 26916793Free PMC Article

Diagnosis

Martinez-Amezcua P, Dooley EE, Reed NS, Powell D, Hornikel B, Golub JS, Pettee Gabriel K, Palta P
JAMA Netw Open 2022 Mar 1;5(3):e222983. doi: 10.1001/jamanetworkopen.2022.2983. PMID: 35302630Free PMC Article
Timmer BHB, Hickson L, Launer S
Hear Res 2018 Nov;369:24-28. Epub 2018 Jun 19 doi: 10.1016/j.heares.2018.06.012. PMID: 29933937
Gieseler A, Tahden MAS, Thiel CM, Colonius H
Exp Brain Res 2018 Apr;236(4):1161-1179. Epub 2018 Feb 16 doi: 10.1007/s00221-018-5206-6. PMID: 29453491
Mehra S, Eavey RD, Keamy DG Jr
Otolaryngol Head Neck Surg 2009 Apr;140(4):461-72. doi: 10.1016/j.otohns.2008.12.022. PMID: 19328331
van der Werf M, van Boxtel M, Verhey F, Jolles J, Thewissen V, van Os J
Schizophr Res 2007 Aug;94(1-3):180-6. Epub 2007 May 23 doi: 10.1016/j.schres.2007.04.006. PMID: 17524621

Therapy

Douglas RS, Kahaly GJ, Ugradar S, Elflein H, Ponto KA, Fowler BT, Dailey R, Harris GJ, Schiffman J, Tang R, Wester S, Jain AP, Marcocci C, Marinò M, Antonelli A, Eckstein A, Führer-Sakel D, Salvi M, Sile S, Francis-Sedlak M, Holt RJ, Smith TJ
Ophthalmology 2022 Apr;129(4):438-449. Epub 2021 Oct 21 doi: 10.1016/j.ophtha.2021.10.017. PMID: 34688699
Dutz A, Lühr A, Agolli L, Bütof R, Valentini C, Troost EGC, Baumann M, Vermeren X, Geismar D, Lamba N, Lebow ES, Bussière M, Daly JE, Bussière MR, Krause M, Timmermann B, Shih HA, Löck S
Radiother Oncol 2021 Apr;157:15-23. Epub 2021 Jan 19 doi: 10.1016/j.radonc.2021.01.004. PMID: 33482232
Timmer BHB, Hickson L, Launer S
Trends Hear 2018 Jan-Dec;22:2331216518783608. doi: 10.1177/2331216518783608. PMID: 29956590Free PMC Article
Timmer BHB, Hickson L, Launer S
Am J Audiol 2017 Oct 12;26(3S):436-442. doi: 10.1044/2017_AJA-16-0126. PMID: 29049626
van Zon A, van der Heijden GJ, van Dongen TM, Burton MJ, Schilder AG
Cochrane Database Syst Rev 2012 Sep 12;(9):CD009163. doi: 10.1002/14651858.CD009163.pub2. PMID: 22972136

Prognosis

Quatre R, Schmerber S, Attyé A
J Neuroradiol 2024 Mar;51(2):145-154. Epub 2023 Oct 6 doi: 10.1016/j.neurad.2023.10.002. PMID: 37806523
Douglas RS, Kahaly GJ, Ugradar S, Elflein H, Ponto KA, Fowler BT, Dailey R, Harris GJ, Schiffman J, Tang R, Wester S, Jain AP, Marcocci C, Marinò M, Antonelli A, Eckstein A, Führer-Sakel D, Salvi M, Sile S, Francis-Sedlak M, Holt RJ, Smith TJ
Ophthalmology 2022 Apr;129(4):438-449. Epub 2021 Oct 21 doi: 10.1016/j.ophtha.2021.10.017. PMID: 34688699
Xiong B, Liu Z, Liu Q, Peng Y, Wu H, Lin Y, Zhao X, Sun W
Hear Res 2019 Dec;384:107826. Epub 2019 Oct 17 doi: 10.1016/j.heares.2019.107826. PMID: 31683074
Mehra S, Eavey RD, Keamy DG Jr
Otolaryngol Head Neck Surg 2009 Apr;140(4):461-72. doi: 10.1016/j.otohns.2008.12.022. PMID: 19328331
van Boxtel MP, van Beijsterveldt CE, Houx PJ, Anteunis LJ, Metsemakers JF, Jolles J
J Clin Exp Neuropsychol 2000 Feb;22(1):147-54. doi: 10.1076/1380-3395(200002)22:1;1-8;FT147. PMID: 10649553

Clinical prediction guides

Quatre R, Schmerber S, Attyé A
J Neuroradiol 2024 Mar;51(2):145-154. Epub 2023 Oct 6 doi: 10.1016/j.neurad.2023.10.002. PMID: 37806523
Vaddamanu SK, Alhamoudi FH, Binduhayyim RIH, AlJameel AH, Alwadi MAM, Di Blasio M, Cicciù M, Minervini G
BMC Oral Health 2023 Sep 22;23(1):685. doi: 10.1186/s12903-023-03392-2. PMID: 37737170Free PMC Article
Koo M, Nguyen W, Lee JH, Oh SH, Kyun Park M
J Int Adv Otol 2022 Sep;18(5):399-404. doi: 10.5152/iao.2022.21469. PMID: 36063096Free PMC Article
Douglas RS, Kahaly GJ, Ugradar S, Elflein H, Ponto KA, Fowler BT, Dailey R, Harris GJ, Schiffman J, Tang R, Wester S, Jain AP, Marcocci C, Marinò M, Antonelli A, Eckstein A, Führer-Sakel D, Salvi M, Sile S, Francis-Sedlak M, Holt RJ, Smith TJ
Ophthalmology 2022 Apr;129(4):438-449. Epub 2021 Oct 21 doi: 10.1016/j.ophtha.2021.10.017. PMID: 34688699
Gieseler A, Tahden MAS, Thiel CM, Colonius H
Exp Brain Res 2018 Apr;236(4):1161-1179. Epub 2018 Feb 16 doi: 10.1007/s00221-018-5206-6. PMID: 29453491

Recent systematic reviews

Quatre R, Schmerber S, Attyé A
J Neuroradiol 2024 Mar;51(2):145-154. Epub 2023 Oct 6 doi: 10.1016/j.neurad.2023.10.002. PMID: 37806523
van Zon A, van der Heijden GJ, van Dongen TM, Burton MJ, Schilder AG
Cochrane Database Syst Rev 2012 Sep 12;(9):CD009163. doi: 10.1002/14651858.CD009163.pub2. PMID: 22972136

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