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Syndromic genetic hearing loss

MedGen UID:
583186
•Concept ID:
C0395976
•
Disease or Syndrome
Synonym: Syndromic genetic deafness
SNOMED CT: Hearing loss associated with syndrome (232333009); Syndromal deafness (232333009)
 
Orphanet: ORPHA90642

Definition

Over 400 syndromes have been identified with atypical hearing thresholds. For more information, visit the Hereditary Hearing Loss website (Van Camp & Smith, 2016) [from LNC]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSyndromic genetic hearing loss

Professional guidelines

PubMed

The clinical manifestations, molecular mechanisms and treatment of craniosynostosis.
Stanton E, Urata M, Chen JF, Chai Y
Dis Model Mech 2022 Apr 1;15(4) Epub 2022 Apr 22 doi: 10.1242/dmm.049390. PMID: 35451466Free PMC Article
Treacher Collins Syndrome: Genetics, Clinical Features and Management.
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016

Recent clinical studies

Diagnosis

An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T, Shekari Khaniani M, Zarei F, Farbodnia M, Mansoori Derakhshan S
Int J Pediatr Otorhinolaryngol 2017 Jun;97:113-126. Epub 2017 Apr 6 doi: 10.1016/j.ijporl.2017.04.007. PMID: 28483220
The diagnosis of syndromic genetic hearing loss: a new proposal for an international cooperation.
Grisanti G, Grisanti S
Scand Audiol Suppl 1997;45:45-6. PMID: 9309826
Worldwide analysis and collection centre for data on syndromic genetic hearing loss: a new proposal.
Grisanti G
Scand Audiol Suppl 1996;42:23-5. PMID: 8668902

Supplemental Content

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    Clinical resources

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    Reviews

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