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Profound sensorineural hearing impairment

MedGen UID:
868926
Concept ID:
C4023338
Disease or Syndrome
HPO: HP:0011476

Definition

Complete loss of hearing related to a sensorineural defect. [from HPO]

Term Hierarchy

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

Conditions with this feature

Autosomal recessive nonsyndromic hearing loss 48
MedGen UID:
332149
Concept ID:
C1836199
Disease or Syndrome
DFNB48 is an autosomal recessive form of deafness. Affected individuals have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies (summary by Riazuddin et al., 2012).
Autosomal recessive nonsyndromic hearing loss 3
MedGen UID:
325373
Concept ID:
C1838263
Disease or Syndrome
Autosomal recessive deafness-3 (DFNB3) is a congenital, profound, neurosensory deafness. There are no apparent vestibular abnormalities or dysmorphic features (Friedman et al., 1995).
Deafness with labyrinthine aplasia, microtia, and microdontia
MedGen UID:
342803
Concept ID:
C1853144
Disease or Syndrome
Congenital deafness with labyrinthine aplasia, microtia, and microdontia (LAMM syndrome) is characterized by: profound bilateral congenital sensorineural deafness associated with inner ear anomalies (most often bilateral complete labyrinthine aplasia); microtia (type I) that is typically bilateral (although unilateral microtia and normal external ears are observed on occasion); and microdontia (small teeth). Individuals with LAMM syndrome commonly have motor delays during infancy presumably due to impaired balance from inner ear (vestibular) abnormalities. Growth, physical development, and cognition are normal.
Autosomal recessive nonsyndromic hearing loss 46
MedGen UID:
355302
Concept ID:
C1864815
Disease or Syndrome
An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.
Autosomal recessive nonsyndromic hearing loss 24
MedGen UID:
370208
Concept ID:
C1970239
Disease or Syndrome
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene.
Hearing loss, autosomal dominant 78
MedGen UID:
1777362
Concept ID:
C5436768
Disease or Syndrome
Autosomal dominant deafness-78 (DFNA78) is characterized by profound congenital bilateral sensorineural hearing loss affecting all frequencies. Some patients may have mild motor delay early in life due to vestibular dysfunction, although the motor skills catch up with age. Affected individuals do not have systemic or other neurologic manifestations (summary by Mutai et al., 2020).
Deafness, congenital, and adult-onset progressive leukoencephalopathy
MedGen UID:
1784506
Concept ID:
C5543087
Disease or Syndrome
Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE) is an autosomal recessive complex neurodegenerative disorder characterized by congenital neurosensory deafness followed by onset of neurodegenerative symptoms, including pyramidal signs and cognitive decline, in young adulthood. Some patients may have mild developmental delay or learning difficulties in childhood, but most can function independently. The onset of motor and cognitive decline in adulthood can be rapid and may result in early death. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy. More variable additional features may include visual impairment and axonal peripheral neuropathy (summary by Scheidecker et al., 2019).

Professional guidelines

PubMed

Li J, Cheng J, Lu Y, Lu Y, Chen A, Sun Y, Kang D, Zhang X, Dai P, Han D, Yuan H
J Genet Genomics 2010 Dec;37(12):787-93. doi: 10.1016/S1673-8527(09)60096-5. PMID: 21193157

Recent clinical studies

Etiology

Wesdorp M, van de Kamp JM, Hensen EF, Schraders M, Oostrik J, Yntema HG, Feenstra I, Admiraal RJC, Kunst HPM, Tekin M, Kanaan M, Kremer H, Pennings RJE
Hear Res 2017 Apr;347:56-62. Epub 2017 Jan 12 doi: 10.1016/j.heares.2016.12.017. PMID: 28089734
Dietz A, Wüstefeld M, Niskanen M, Löppönen H
Otol Neurotol 2016 Jun;37(5):487-91. doi: 10.1097/MAO.0000000000001025. PMID: 27093026
Campos PD, Mondelli MF, Ferrari DV
Braz J Otorhinolaryngol 2011 Sep-Oct;77(5):555-8. doi: 10.1590/s1808-86942011000500003. PMID: 22030960Free PMC Article
Skarzyński H, Porowski M, Podskarbi-Fayette R
Int J Pediatr Otorhinolaryngol 2009 Jul;73(7):915-21. Epub 2009 Feb 8 doi: 10.1016/j.ijporl.2009.01.015. PMID: 19203801
Hamzavi J, Franz P, Baumgartner WD, Gstöettner W
Audiology 2001 Jan-Feb;40(1):26-31. doi: 10.3109/00206090109073097. PMID: 11296938

Diagnosis

Liaqat K, Hussain S, Bilal M, Nasir A, Acharya A, Ali RH, Nawaz S, Umair M, Schrauwen I, Ahmad W, Leal SM
J Hum Genet 2020 Jan;65(2):187-192. Epub 2019 Oct 28 doi: 10.1038/s10038-019-0691-4. PMID: 31656313Free PMC Article
Ziegler A, Loundon N, Jonard L, Cavé H, Baujat G, Gherbi S, Couloigner V, Marlin S
Otol Neurotol 2017 Sep;38(8):1081-1084. doi: 10.1097/MAO.0000000000001509. PMID: 28742629
Skarzyński H, Porowski M, Podskarbi-Fayette R
Int J Pediatr Otorhinolaryngol 2009 Jul;73(7):915-21. Epub 2009 Feb 8 doi: 10.1016/j.ijporl.2009.01.015. PMID: 19203801
Moore BC, Killen T, Munro KJ
Int J Audiol 2003 Dec;42(8):465-74. doi: 10.3109/14992020309081516. PMID: 14658854
Hamzavi J, Franz P, Baumgartner WD, Gstöettner W
Audiology 2001 Jan-Feb;40(1):26-31. doi: 10.3109/00206090109073097. PMID: 11296938

Therapy

Dietz A, Wüstefeld M, Niskanen M, Löppönen H
Otol Neurotol 2016 Jun;37(5):487-91. doi: 10.1097/MAO.0000000000001025. PMID: 27093026
Moore BC, Killen T, Munro KJ
Int J Audiol 2003 Dec;42(8):465-74. doi: 10.3109/14992020309081516. PMID: 14658854

Prognosis

Wesdorp M, van de Kamp JM, Hensen EF, Schraders M, Oostrik J, Yntema HG, Feenstra I, Admiraal RJC, Kunst HPM, Tekin M, Kanaan M, Kremer H, Pennings RJE
Hear Res 2017 Apr;347:56-62. Epub 2017 Jan 12 doi: 10.1016/j.heares.2016.12.017. PMID: 28089734
Zong L, Chen K, Wu X, Liu M, Jiang H
Int J Pediatr Otorhinolaryngol 2016 Nov;90:150-155. Epub 2016 Sep 12 doi: 10.1016/j.ijporl.2016.09.010. PMID: 27729122

Clinical prediction guides

Liaqat K, Hussain S, Bilal M, Nasir A, Acharya A, Ali RH, Nawaz S, Umair M, Schrauwen I, Ahmad W, Leal SM
J Hum Genet 2020 Jan;65(2):187-192. Epub 2019 Oct 28 doi: 10.1038/s10038-019-0691-4. PMID: 31656313Free PMC Article
Zong L, Chen K, Wu X, Liu M, Jiang H
Int J Pediatr Otorhinolaryngol 2016 Nov;90:150-155. Epub 2016 Sep 12 doi: 10.1016/j.ijporl.2016.09.010. PMID: 27729122
Weegerink NJ, Pennings RJ, Huygen PL, Hoefsloot LH, Cremers CW, Kunst HP
Ann Otol Rhinol Laryngol 2011 Mar;120(3):191-7. doi: 10.1177/000348941112000308. PMID: 21510145
Yuen KC, Ng IH, Luk BP, Chan SK, Chan SC, Kwok IC, Yu HC, Chan TM, Hung TC, Tong MC
Int J Pediatr Otorhinolaryngol 2008 Jul;72(7):1121-9. Epub 2008 May 15 doi: 10.1016/j.ijporl.2008.03.025. PMID: 18485493
Hamzavi J, Franz P, Baumgartner WD, Gstöettner W
Audiology 2001 Jan-Feb;40(1):26-31. doi: 10.3109/00206090109073097. PMID: 11296938

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