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Severe sensorineural hearing impairment

MedGen UID:
867175
Concept ID:
C4021533
Disease or Syndrome
Synonyms: Hearing loss, sensorineural, severe; Sensorineural hearing loss, severe
 
HPO: HP:0008625

Definition

A severe form of sensorineural hearing impairment. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Severe sensorineural hearing impairment

Conditions with this feature

Autosomal recessive nonsyndromic hearing loss 28
MedGen UID:
342839
Concept ID:
C1853276
Disease or Syndrome
An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.
Chudley-McCullough syndrome
MedGen UID:
347699
Concept ID:
C1858695
Disease or Syndrome
Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal (summary by Alrashdi et al., 2011).
Deaf blind hypopigmentation syndrome, Yemenite type
MedGen UID:
355712
Concept ID:
C1866425
Disease or Syndrome
An exceedingly rare genetic disorder with characteristics of cutaneous pigmentation anomalies, ocular disorders and hearing loss. The syndrome was described in 1990 in two patients from the same Yemenite family. A brother and sister were described as having cutaneous patchy hypo and hyperpigmentation on the trunk and extremities, gray hair, white brows and lashes. Ocular manifestations were microcornea, coloboma and abnormalities of the anterior chamber of the eye. Both patients had severe hearing loss and dental abnormalities. Intelligence was reported to be normal. Their parents were unaffected and possibly consanguineous. The cause of this syndrome has not been determined. The inheritance pattern appears to be autosomal recessive.
Craniofacial anomalies and anterior segment dysgenesis syndrome
MedGen UID:
481729
Concept ID:
C3280099
Disease or Syndrome

Professional guidelines

PubMed

Basura GJ, Adams ME, Monfared A, Schwartz SR, Antonelli PJ, Burkard R, Bush ML, Bykowski J, Colandrea M, Derebery J, Kelly EA, Kerber KA, Koopman CF, Kuch AA, Marcolini E, McKinnon BJ, Ruckenstein MJ, Valenzuela CV, Vosooney A, Walsh SA, Nnacheta LC, Dhepyasuwan N, Buchanan EM
Otolaryngol Head Neck Surg 2020 Apr;162(2_suppl):S1-S55. doi: 10.1177/0194599820909438. PMID: 32267799
Michels TC, Duffy MT, Rogers DJ
Am Fam Physician 2019 Jul 15;100(2):98-108. PMID: 31305044
Kuhn M, Heman-Ackah SE, Shaikh JA, Roehm PC
Trends Amplif 2011 Sep;15(3):91-105. Epub 2011 May 22 doi: 10.1177/1084713811408349. PMID: 21606048Free PMC Article

Recent clinical studies

Etiology

Ahadi M, Milani M, Malayeri S
Int J Pediatr Otorhinolaryngol 2015 Aug;79(8):1362-5. Epub 2015 Jun 17 doi: 10.1016/j.ijporl.2015.06.013. PMID: 26112666
van Trier DC, van Nierop J, Draaisma JMT, van der Burgt I, Kunst H, Croonen EA, Admiraal RJC
Int J Pediatr Otorhinolaryngol 2015 Jun;79(6):874-878. Epub 2015 Apr 1 doi: 10.1016/j.ijporl.2015.03.021. PMID: 25862627
Başkent D, Bazo D
Ear Hear 2011 Sep-Oct;32(5):582-92. doi: 10.1097/AUD.0b013e31820fca23. PMID: 21389856
Tomblin B, Hebbeler K
Ear Hear 2007 Dec;28(6):715-28. doi: 10.1097/AUD.0b013e318157f093. PMID: 17982360
Snik AF, Cremers CW
Arch Otolaryngol Head Neck Surg 2001 Dec;127(12):1433-7. doi: 10.1001/archotol.127.12.1433. PMID: 11735810

Diagnosis

Slugocki C, Kuk F, Korhonen P
Ear Hear 2020 Sep/Oct;41(5):1282-1293. doi: 10.1097/AUD.0000000000000847. PMID: 32058351
Fay JP, Perkins R, Levy SC, Nilsson M, Puria S
Otol Neurotol 2013 Jul;34(5):912-21. doi: 10.1097/MAO.0b013e31827de4b1. PMID: 23524632Free PMC Article
Başkent D, Bazo D
Ear Hear 2011 Sep-Oct;32(5):582-92. doi: 10.1097/AUD.0b013e31820fca23. PMID: 21389856
Jerger S
Ear Hear 2007 Dec;28(6):754-65. doi: 10.1097/AUD.0b013e318157f049. PMID: 17982363
Snik AF, Mylanus EA, Cremers CW, Dillier N, Fisch U, Gnadeberg D, Lenarz T, Mazolli M, Babighian G, Uziel AS, Cooper HR, O'Connor AF, Fraysse B, Charachon R, Shehata-Dieler WE
Otolaryngol Clin North Am 2001 Apr;34(2):373-88. doi: 10.1016/s0030-6665(05)70337-6. PMID: 11382576

Therapy

Slugocki C, Kuk F, Korhonen P
Ear Hear 2020 Sep/Oct;41(5):1282-1293. doi: 10.1097/AUD.0000000000000847. PMID: 32058351
Hough JV, Matthews P, Wood MW, Dyer RK Jr
Otol Neurotol 2002 Nov;23(6):895-903. doi: 10.1097/00129492-200211000-00015. PMID: 12438853
Snik AF, Mylanus EA, Cremers CW, Dillier N, Fisch U, Gnadeberg D, Lenarz T, Mazolli M, Babighian G, Uziel AS, Cooper HR, O'Connor AF, Fraysse B, Charachon R, Shehata-Dieler WE
Otolaryngol Clin North Am 2001 Apr;34(2):373-88. doi: 10.1016/s0030-6665(05)70337-6. PMID: 11382576
Harris RW, Swenson DW
Audiology 1990;29(6):314-21. doi: 10.3109/00206099009072862. PMID: 2275646

Prognosis

Slugocki C, Kuk F, Korhonen P
Ear Hear 2020 Sep/Oct;41(5):1282-1293. doi: 10.1097/AUD.0000000000000847. PMID: 32058351
Kramer SJ, Vertes DR, Condon M
Pediatrics 1989 Mar;83(3):385-92. PMID: 2919142

Clinical prediction guides

Yalcouyé A, Diallo SH, Cissé L, Karembé M, Diallo S, Coulibaly T, Diarra S, Coulibaly D, Keita M, Guinto CO, Fischbeck KH, Wonkam A, Landouré G; H3Africa Consortium
J Peripher Nerv Syst 2022 Jun;27(2):113-119. Epub 2022 Apr 5 doi: 10.1111/jns.12486. PMID: 35383424
Başkent D, Bazo D
Ear Hear 2011 Sep-Oct;32(5):582-92. doi: 10.1097/AUD.0b013e31820fca23. PMID: 21389856
Hough JV, Matthews P, Wood MW, Dyer RK Jr
Otol Neurotol 2002 Nov;23(6):895-903. doi: 10.1097/00129492-200211000-00015. PMID: 12438853

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