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Congenital sensorineural hearing impairment

MedGen UID:
356101
Concept ID:
C1865866
Disease or Syndrome; Finding
Synonyms: Congenital neurosensory deafness; Congenital sensorineural deafness; Congenital sensorineural hearing loss; Deafness, congenital sensorineural; Deafness, sensorineural, congenital; Hearing loss, congenital sensorineural; Hearing loss, sensorineural, congenital; Sensorineural hearing loss, congenital
SNOMED CT: Congenital sensorineural hearing loss (700453005); Congenital sensorineural deafness (700453005)
 
HPO: HP:0008527

Definition

A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. [from HPO]

Term Hierarchy

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

Conditions with this feature

Progressive recessive dystrophic epidermolysis bullosa
MedGen UID:
78666
Concept ID:
C0268368
Congenital Abnormality
Pendred syndrome
MedGen UID:
82890
Concept ID:
C0271829
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.
Tietz syndrome
MedGen UID:
98213
Concept ID:
C0391816
Disease or Syndrome
Tietz albinism-deafness syndrome (TADS) is characterized by generalized pigment loss and congenital complete sensorineural hearing loss (summary by Izumi et al., 2008).
X-linked mixed hearing loss with perilymphatic gusher
MedGen UID:
336750
Concept ID:
C1844678
Disease or Syndrome
DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by de Kok et al., 1995 and Song et al., 2010). See also choroideremia, deafness, and mental retardation (303110), a contiguous gene deletion syndrome involving the POU3F4 and CHM (300390) genes on Xq21; isolated choroideremia (303100) is caused by mutation in the CHM gene.
Albinism-hearing loss syndrome
MedGen UID:
375573
Concept ID:
C1845068
Disease or Syndrome
Syndrome with characteristics of congenital nerve deafness and piebaldness without ocular albinism. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.
Waardenburg syndrome type 1
MedGen UID:
376211
Concept ID:
C1847800
Disease or Syndrome
Waardenburg syndrome type I (WS1) is an auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin along with dystopia canthorum (lateral displacement of the inner canthi). The hearing loss in WS1, observed in approximately 60% of affected individuals, is congenital, typically non-progressive, either unilateral or bilateral, and sensorineural. Most commonly, hearing loss in WS1 is bilateral and profound (>100 dB). The majority of individuals with WS1 have either a white forelock or early graying of the scalp hair before age 30 years. The classic white forelock observed in approximately 45% of individuals is the most common hair pigmentation anomaly seen in WS1. Affected individuals may have complete heterochromia iridium, partial/segmental heterochromia, or hypoplastic or brilliant blue irides. Congenital leukoderma is frequently seen on the face, trunk, or limbs.
Homozygous 11P15-p14 deletion syndrome
MedGen UID:
338336
Concept ID:
C1847866
Disease or Syndrome
Usher syndrome type 1C
MedGen UID:
338506
Concept ID:
C1848604
Disease or Syndrome
Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.
Usher syndrome type 2A
MedGen UID:
338513
Concept ID:
C1848634
Disease or Syndrome
Usher syndrome type II (USH2) is characterized by the following: Congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Intact or variable vestibular responses. Retinitis pigmentosa (RP); progressive, bilateral, symmetric retinal degeneration that begins with night blindness and constricted visual fields (tunnel vision) and eventually includes decreased central visual acuity; the rate and degree of vision loss vary within and among families.
Deafness-oligodontia syndrome
MedGen UID:
387798
Concept ID:
C1857333
Disease or Syndrome
Rare syndrome with manifestation of sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Transmission appears to be autosomal recessive.
Usher syndrome type 1E
MedGen UID:
400865
Concept ID:
C1865865
Disease or Syndrome
Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.
Usher syndrome type 1F
MedGen UID:
356393
Concept ID:
C1865885
Disease or Syndrome
Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.
Autosomal recessive nonsyndromic hearing loss 63
MedGen UID:
409872
Concept ID:
C1969621
Disease or Syndrome
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene.
Jervell and Lange-Nielsen syndrome 2
MedGen UID:
394108
Concept ID:
C2676723
Disease or Syndrome
Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and long QTc, usually >500 msec. Prolongation of the QTc interval is associated with tachyarrhythmias, including ventricular tachycardia, episodes of torsade de pointes ventricular tachycardia, and ventricular fibrillation, which may culminate in syncope or sudden death. Iron-deficient anemia and elevated levels of gastrin are also frequent features of JLNS. The classic presentation of JLNS is a deaf child who experiences syncopal episodes during periods of stress, exercise, or fright. Fifty percent of individuals with JLNS had cardiac events before age three years. More than half of untreated children with JLNS die before age 15 years.
Usher syndrome type 2C
MedGen UID:
419359
Concept ID:
C2931213
Disease or Syndrome
Usher syndrome type II (USH2) is characterized by the following: Congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Intact or variable vestibular responses. Retinitis pigmentosa (RP); progressive, bilateral, symmetric retinal degeneration that begins with night blindness and constricted visual fields (tunnel vision) and eventually includes decreased central visual acuity; the rate and degree of vision loss vary within and among families.
Cardiospondylocarpofacial syndrome
MedGen UID:
444060
Concept ID:
C2931461
Disease or Syndrome
Cardiospondylocarpofacial syndrome (CSCF) is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion, extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations (summary by Le Goff et al., 2016).
Hearing loss, X-linked 3
MedGen UID:
854758
Concept ID:
C3888089
Disease or Syndrome
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
MedGen UID:
934592
Concept ID:
C4310625
Disease or Syndrome
Hearing loss, autosomal recessive 108
MedGen UID:
1627841
Concept ID:
C4539997
Disease or Syndrome
Jervell and Lange-Nielsen syndrome 1
MedGen UID:
1646925
Concept ID:
C4551509
Disease or Syndrome
Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and long QTc, usually >500 msec. Prolongation of the QTc interval is associated with tachyarrhythmias, including ventricular tachycardia, episodes of torsade de pointes ventricular tachycardia, and ventricular fibrillation, which may culminate in syncope or sudden death. Iron-deficient anemia and elevated levels of gastrin are also frequent features of JLNS. The classic presentation of JLNS is a deaf child who experiences syncopal episodes during periods of stress, exercise, or fright. Fifty percent of individuals with JLNS had cardiac events before age three years. More than half of untreated children with JLNS die before age 15 years.
Combined oxidative phosphorylation deficiency 34
MedGen UID:
1631307
Concept ID:
C4693450
Disease or Syndrome
COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Hearing loss, autosomal recessive 109
MedGen UID:
1633308
Concept ID:
C4693935
Disease or Syndrome
DFNB109 is characterized by bilateral congenital severe to profound sensorineural hearing loss. In addition, affected individuals exhibit vestibular dysplasia on CT scan, although they do not manifest problems with balance or movement (Rohacek et al., 2017).
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
MedGen UID:
1779519
Concept ID:
C5542996
Disease or Syndrome
Infantile-onset progressive leukoencephalopathy with or without deafness (LEPID) is an autosomal recessive complex neurodegenerative disorder with onset of symptoms in infancy or early childhood. Most patients present with sensorineural deafness or hypoacousia and global developmental delay. Affected individuals show episodic regression with progressive motor deterioration resulting in spastic tetraplegia and loss of ambulation, as well as impaired intellectual development with poor or absent speech. Additional more variable features may include poor overall growth with microcephaly, seizures, visual loss, microcytic anemia, and hepatic enlargement or abnormal liver enzymes. Brain imaging shows deep white matter abnormalities consistent with a progressive leukoencephalopathy. The brain and spinal cord are usually both involved; calcifications of these regions are often observed. Laboratory studies show increased serum lactate and deficiencies of mitochondrial respiratory chain complexes, consistent with global mitochondrial dysfunction. Early death often occurs (summary by Itoh et al., 2019).
Hearing loss, autosomal dominant 80
MedGen UID:
1779667
Concept ID:
C5543289
Disease or Syndrome
DFNA80 is characterized by nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves (Schrauwen et al., 2018; Schrauwen et al., 2020).
Mitochondrial complex IV deficiency, nuclear type 22
MedGen UID:
1786100
Concept ID:
C5543491
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 22 (MC4DN22) is an autosomal recessive metabolic disorder characterized by neonatal hypertrophic cardiomyopathy, encephalopathy, and severe lactic acidosis with fatal outcome (Wintjes et al., 2021). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.
Hearing loss, autosomal recessive 118, with cochlear aplasia
MedGen UID:
1794206
Concept ID:
C5561996
Disease or Syndrome
DFNB118 is characterized by congenital profound sensorineural hearing loss and cochlear aplasia (Bademci et al., 2020).
Waardenburg syndrome, IIa 2F
MedGen UID:
1809587
Concept ID:
C5677013
Disease or Syndrome
Waardenburg syndrome type 2F (WS2F) is characterized by congenital or neonatal-onset sensorineural hearing loss and altered pigmentation of the iris, hair, and skin. Variable expressivity has been reported, even among patients with the same mutation (Ogawa et al., 2017; Vona et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of WS2, as well as a brief description of other clinical variants of Waardenburg syndrome (WS1, 193500; WS3, 148820; and WS4, 277580), see WS2A (193510).

Professional guidelines

PubMed

Weichbold V, Nekahm-Heis D, Welzl-Mueller K
Int J Pediatr Otorhinolaryngol 2006 Feb;70(2):235-40. Epub 2005 Aug 8 doi: 10.1016/j.ijporl.2005.06.006. PMID: 16085322

Recent clinical studies

Etiology

Casoojee A, Kanji A, Khoza-Shangase K
Int J Pediatr Otorhinolaryngol 2021 Nov;150:110918. Epub 2021 Sep 4 doi: 10.1016/j.ijporl.2021.110918. PMID: 34500357
Pierrache LH, Hartel BP, van Wijk E, Meester-Smoor MA, Cremers FP, de Baere E, de Zaeytijd J, van Schooneveld MJ, Cremers CW, Dagnelie G, Hoyng CB, Bergen AA, Leroy BP, Pennings RJ, van den Born LI, Klaver CC
Ophthalmology 2016 May;123(5):1151-60. Epub 2016 Feb 27 doi: 10.1016/j.ophtha.2016.01.021. PMID: 26927203
Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Dollfus H, Eliot MM, David A, Calais C, Drouin-Garraud V, Obstoy MF, Tran Ba Huy P, Lacombe D, Duriez F, Francannet C, Bitoun P, Petit C, Garabédian EN, Couderc R, Marlin S, Denoyelle F
Eur J Hum Genet 2006 Jun;14(6):773-9. doi: 10.1038/sj.ejhg.5201611. PMID: 16570074
Weichbold V, Nekahm-Heis D, Welzl-Mueller K
Int J Pediatr Otorhinolaryngol 2006 Feb;70(2):235-40. Epub 2005 Aug 8 doi: 10.1016/j.ijporl.2005.06.006. PMID: 16085322
Robertson C, Aldridge S, Jarman F, Saunders K, Poulakis Z, Oberklaid F
Arch Dis Child 1995 Jan;72(1):11-5. doi: 10.1136/adc.72.1.11. PMID: 7717729Free PMC Article

Diagnosis

D'Esposito F, Randazzo V, Cennamo G, Centore N, Maltese PE, Malesci R, D'Andrea L, Bertelli M, Marciano E, de Crecchio G, Pioppo A, Magli A, Cordeiro MF
Eur J Ophthalmol 2021 Mar;31(2):NP18-NP22. Epub 2019 Sep 30 doi: 10.1177/1120672119879392. PMID: 31566003
Kari E, Llaci L, Go JL, Naymik M, Knowles JA, Leal SM, Rangasamy S, Huentelman MJ, Friedman RA, Schrauwen I
Mol Genet Genomic Med 2019 Dec;7(12):e995. Epub 2019 Oct 8 doi: 10.1002/mgg3.995. PMID: 31595699Free PMC Article
Weichbold V, Nekahm-Heis D, Welzl-Mueller K
Int J Pediatr Otorhinolaryngol 2006 Feb;70(2):235-40. Epub 2005 Aug 8 doi: 10.1016/j.ijporl.2005.06.006. PMID: 16085322
Cross NC, Stephens SD, Francis M, Hourihan MD, Reardon W
Clin Otolaryngol Allied Sci 1999 Jun;24(3):235-8. doi: 10.1046/j.1365-2273.1999.00262.x. PMID: 10384853
Robertson C, Aldridge S, Jarman F, Saunders K, Poulakis Z, Oberklaid F
Arch Dis Child 1995 Jan;72(1):11-5. doi: 10.1136/adc.72.1.11. PMID: 7717729Free PMC Article

Therapy

Cross NC, Stephens SD, Francis M, Hourihan MD, Reardon W
Clin Otolaryngol Allied Sci 1999 Jun;24(3):235-8. doi: 10.1046/j.1365-2273.1999.00262.x. PMID: 10384853

Prognosis

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
Pierrache LH, Hartel BP, van Wijk E, Meester-Smoor MA, Cremers FP, de Baere E, de Zaeytijd J, van Schooneveld MJ, Cremers CW, Dagnelie G, Hoyng CB, Bergen AA, Leroy BP, Pennings RJ, van den Born LI, Klaver CC
Ophthalmology 2016 May;123(5):1151-60. Epub 2016 Feb 27 doi: 10.1016/j.ophtha.2016.01.021. PMID: 26927203

Clinical prediction guides

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
Hu H, Wu L, Feng Y, Pan Q, Long Z, Li J, Dai H, Xia K, Liang D, Niikawa N, Xia J
J Hum Genet 2007;52(6):492-497. Epub 2007 Apr 19 doi: 10.1007/s10038-007-0139-0. PMID: 17443271
Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Dollfus H, Eliot MM, David A, Calais C, Drouin-Garraud V, Obstoy MF, Tran Ba Huy P, Lacombe D, Duriez F, Francannet C, Bitoun P, Petit C, Garabédian EN, Couderc R, Marlin S, Denoyelle F
Eur J Hum Genet 2006 Jun;14(6):773-9. doi: 10.1038/sj.ejhg.5201611. PMID: 16570074
Robertson C, Aldridge S, Jarman F, Saunders K, Poulakis Z, Oberklaid F
Arch Dis Child 1995 Jan;72(1):11-5. doi: 10.1136/adc.72.1.11. PMID: 7717729Free PMC Article

Recent systematic reviews

Casoojee A, Kanji A, Khoza-Shangase K
Int J Pediatr Otorhinolaryngol 2021 Nov;150:110918. Epub 2021 Sep 4 doi: 10.1016/j.ijporl.2021.110918. PMID: 34500357

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