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High-frequency sensorineural hearing impairment

MedGen UID:
867405
Concept ID:
C4021775
Disease or Syndrome
Synonyms: High frequency sensorineural hearing impairment; High-tone sensorineural deafness; High-tone sensorineural hearing impairment
 
HPO: HP:0001757

Definition

A form of sensorineural hearing impairment that affects primarily the higher frequencies. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHigh-frequency sensorineural hearing impairment

Conditions with this feature

X-linked diffuse leiomyomatosis-Alport syndrome
MedGen UID:
333429
Concept ID:
C1839884
Disease or Syndrome
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
MedGen UID:
482790
Concept ID:
C3281160
Disease or Syndrome
FKBP14 kyphoscoliotic Ehlers-Danlos syndrome (FKBP14-kEDS) is characterized by congenital muscle hypotonia and weakness (typically improving during childhood), progressive scoliosis, joint hypermobility, hyperelastic skin, gross motor developmental delay, myopathy, and hearing impairment. Most affected children achieve independent walking between ages two and four years. A decline of motor function in adulthood may be seen, but affected individuals are likely to be able to participate in activities of daily living in adulthood and maintain independent walking. Occasional features underlying systemic connective tissue involvement include aortic rupture and arterial dissection, subdural hygroma, insufficiency of cardiac valves, bluish sclerae, bladder diverticula, inguinal or umbilical herniae, and premature rupture of membranes during pregnancy. Rarer findings may include bifid uvula with submucous or frank cleft palate, speech/language delay without true cognitive impairment, and rectal prolapse.
Cone-rod dystrophy and hearing loss 2
MedGen UID:
1675017
Concept ID:
C5193051
Disease or Syndrome
Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss (Kubota et al., 2018). For a discussion of genetic heterogeneity of cone-rod dystrophy and hearing loss, see CRDHL1 (617236).

Professional guidelines

PubMed

Ahmed MM, Allard RJ, Esquivel CR
Mil Med 2022 May 3;187(5-6):e661-e666. doi: 10.1093/milmed/usaa579. PMID: 33428745
Choi JE, Moon IJ, Kim H, Lee K, Cho YS, Chung WH
Acta Otolaryngol 2017 Jan;137(1):16-22. Epub 2016 Aug 26 doi: 10.1080/00016489.2016.1213419. PMID: 27564530
Tamary H, Goshen J, Carmi D, Yaniv I, Kaplinsky C, Cohen IJ, Zaizov R
Isr J Med Sci 1994 Aug;30(8):658-64. PMID: 8045754

Recent clinical studies

Etiology

Petzold F, Bachmann A, Bergmann C, Helmchen U, Halbritter J
BMC Nephrol 2019 Sep 2;20(1):340. doi: 10.1186/s12882-019-1523-7. PMID: 31477057Free PMC Article
Uziel A, Mondain M, Hagen P, Dejean F, Doucet G
Otol Neurotol 2003 Sep;24(5):775-83. doi: 10.1097/00129492-200309000-00015. PMID: 14501456
Kunst H, Huybrechts C, Marres H, Huygen P, Van Camp G, Cremers C
Am J Otol 2000 Mar;21(2):181-7. doi: 10.1016/s0196-0709(00)80006-x. PMID: 10733181
Lalwani AK, Brister JR, Fex J, Grundfast KM, Pikus AT, Ploplis B, San Agustin T, Skarka H, Wilcox ER
Am J Hum Genet 1994 Oct;55(4):685-94. PMID: 7942846Free PMC Article

Diagnosis

Incerti PV, Ching TY, Cowan R
Trends Amplif 2013 Mar;17(1):3-26. doi: 10.1177/1084713813480857. PMID: 23539259Free PMC Article
Ensink RJ, Huygen PL, Snoeckx RL, Caethoven G, Van Camp G, Cremers CW
Clin Otolaryngol Allied Sci 2001 Aug;26(4):310-6. doi: 10.1046/j.1365-2273.2001.00477.x. PMID: 11559344
Halling DC, Humes LE
J Speech Lang Hear Res 2000 Apr;43(2):414-31. doi: 10.1044/jslhr.4302.414. PMID: 10757693
Kunst H, Huybrechts C, Marres H, Huygen P, Van Camp G, Cremers C
Am J Otol 2000 Mar;21(2):181-7. doi: 10.1016/s0196-0709(00)80006-x. PMID: 10733181
Smith-Olinde L, Koehnke J, Besing J
J Acoust Soc Am 1998 Apr;103(4):2084-99. doi: 10.1121/1.421355. PMID: 9566330

Therapy

Uziel A, Mondain M, Hagen P, Dejean F, Doucet G
Otol Neurotol 2003 Sep;24(5):775-83. doi: 10.1097/00129492-200309000-00015. PMID: 14501456

Prognosis

Petzold F, Bachmann A, Bergmann C, Helmchen U, Halbritter J
BMC Nephrol 2019 Sep 2;20(1):340. doi: 10.1186/s12882-019-1523-7. PMID: 31477057Free PMC Article
Halling DC, Humes LE
J Speech Lang Hear Res 2000 Apr;43(2):414-31. doi: 10.1044/jslhr.4302.414. PMID: 10757693
Kunst H, Huybrechts C, Marres H, Huygen P, Van Camp G, Cremers C
Am J Otol 2000 Mar;21(2):181-7. doi: 10.1016/s0196-0709(00)80006-x. PMID: 10733181

Clinical prediction guides

Uziel A, Mondain M, Hagen P, Dejean F, Doucet G
Otol Neurotol 2003 Sep;24(5):775-83. doi: 10.1097/00129492-200309000-00015. PMID: 14501456
Ensink RJ, Huygen PL, Snoeckx RL, Caethoven G, Van Camp G, Cremers CW
Clin Otolaryngol Allied Sci 2001 Aug;26(4):310-6. doi: 10.1046/j.1365-2273.2001.00477.x. PMID: 11559344
Halling DC, Humes LE
J Speech Lang Hear Res 2000 Apr;43(2):414-31. doi: 10.1044/jslhr.4302.414. PMID: 10757693
Smith-Olinde L, Koehnke J, Besing J
J Acoust Soc Am 1998 Apr;103(4):2084-99. doi: 10.1121/1.421355. PMID: 9566330
Lalwani AK, Brister JR, Fex J, Grundfast KM, Pikus AT, Ploplis B, San Agustin T, Skarka H, Wilcox ER
Am J Hum Genet 1994 Oct;55(4):685-94. PMID: 7942846Free PMC Article

Recent systematic reviews

Incerti PV, Ching TY, Cowan R
Trends Amplif 2013 Mar;17(1):3-26. doi: 10.1177/1084713813480857. PMID: 23539259Free PMC Article

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