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Congenital sensorineural hearing impairment

MedGen UID:
356101
Concept ID:
C1865866
Congenital Abnormality; Finding
Synonyms: Bilateral congenital sensorineural deafness; Congenital neurosensory deafness; Congenital perceptive deafness; Congenital sensorineural deafness; Congenital sensorineural hearing loss
SNOMED CT: Congenital sensorineural hearing loss (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  
  • CROGVCongenital sensorineural hearing impairment

Conditions with this feature

Jervell and Lange-Nielsen syndrome
MedGen UID:
5929
Concept ID:
C0022387
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.
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 syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Although people with Tietz syndrome are born with white hair and very pale skin, their hair color often darkens over time to blond or red. The skin of affected individuals, which sunburns very easily, may tan slightly or develop reddish freckles with limited sun exposure; however, their skin and hair color remain lighter than those of other members of their family.Tietz syndrome also affects the eyes. The colored part of the eye (the iris) in affected individuals is blue, and specialized cells in the eye called retinal pigment epithelial cells lack their normal pigment. The retinal pigment epithelium nourishes the retina, the part of the eye that detects light and color. The changes to the retinal pigment epithelium are generally detectable only by an eye examination; it is unclear whether the changes affect vision.
Forney Robinson Pascoe syndrome
MedGen UID:
331835
Concept ID:
C1834818
Disease or Syndrome
Cardiospondylocarpofacial syndrome 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 (Le Goff et al., 2016).
Waardenburg syndrome type 2D
MedGen UID:
323102
Concept ID:
C1837203
Disease or Syndrome
Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). WS type 2D is caused by mutation in the SNAI2 gene (602150). Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).
Albinism deafness 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
Deafness, X-linked 3
MedGen UID:
338433
Concept ID:
C1848294
Gene or Genome
Usher syndrome, type 1C
MedGen UID:
338506
Concept ID:
C1848604
Disease or Syndrome
Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Unless fitted with a cochlear implant, individuals do not typically develop speech. Retinitis pigmentosa (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 is characterized by: Congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies; Intact vestibular responses; and Retinitis pigmentosa (RP). RP is 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.
Usher syndrome, type 2C
MedGen UID:
340169
Concept ID:
C1854237
Usher syndrome type II is characterized by: Congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies; Intact vestibular responses; and Retinitis pigmentosa (RP). RP is 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.
Waardenburg syndrome type 2A
MedGen UID:
349786
Concept ID:
C1860339
Disease or Syndrome
Waardenburg syndrome type 2 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by Read and Newton, 1997 and Pingault et al., 2010). Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Waardenburg syndrome type 1 (WS1; 193500) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type 2 (WS2) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3; 148820) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 (WS4; 277580), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 2 Waardenburg syndrome type 2 is a genetically heterogeneous disorder. WS2B (600193) has been mapped to chromosome 1p, WS2C (606662) has been mapped to chromosome 8p23, WS2D (608890) is caused by mutation in the SNAI2 gene (602150) on chromosome 8q11, and WS2E (611584) is caused by mutation in the SOX10 gene (602229) on chromosome 22q13.
Usher syndrome, type 1E
MedGen UID:
400865
Concept ID:
C1865865
Disease or Syndrome
Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Unless fitted with a cochlear implant, individuals do not typically develop speech. Retinitis pigmentosa (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 is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Unless fitted with a cochlear implant, individuals do not typically develop speech. Retinitis pigmentosa (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.

Recent clinical studies

Etiology

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
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. PMID: 7717729Free PMC Article

Diagnosis

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
Eisenberger T, Slim R, Mansour A, Nauck M, Nürnberg G, Nürnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz HJ
Orphanet J Rare Dis 2012 Sep 2;7:59. doi: 10.1186/1750-1172-7-59. PMID: 22938382Free 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. PMID: 10384853
Robertson C, Aldridge S, Jarman F, Saunders K, Poulakis Z, Oberklaid F
Arch Dis Child 1995 Jan;72(1):11-5. 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. 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):492-7. 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. PMID: 7717729Free PMC Article

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