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Peer-reviewedCC BY-NC-ND 4.0Otolaryngology--Head and Neck Surgery

CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis

  • Camille Caron1
  • Massil Badji2
  • Camille Prigent3
  • Alix Pincivy4
  • Erika Mercier5,6
  • Mathieu Bergeron7,8,9
9 affiliations
  1. 1Department of Anesthesia Université de Montréal Montreal Quebec Canada
  2. 2Department of Family Medicine McGill University Montreal Quebec Canada
  3. 3Faculty of Medical and Health Sciences School of Medicine, University of Auckland Auckland New Zealand
  4. 4Medical Library CHU Ste Justine Montreal Quebec Canada
  5. 5Department of Otolaryngology–Head and Neck Surgery Harvard Medical School Boston USA
  6. 6Department of Otolaryngology and Communication Enhancement Boston Children's Hospital Boston USA
  7. 7Department of Surgery Université de Montréal Montreal Quebec Canada
  8. 8Department of Pediatric Otolaryngology–Head and Neck Surgery CHU Ste‐Justine Montreal Quebec Canada
  9. 9Infectious Diseases and Acute Care Axis, CHU Ste‐Justine Research Institute CHU Sainte Justine Montreal Quebec Canada
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Abstract

Objective: To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management.

Data Sources: PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.

Review Methods: This systematic review and proportional meta‐analysis adhered to PRISMA guidelines. Screening and extraction were performed (January‐May 2025) by 2 independent reviewers using a standardized template. Pooled prevalence estimates were generated using random‐effects models with 95% confidence intervals (CIs);heterogeneity was assessed with I 2. Study quality was assessed with the Newcastle‐Ottawa Scale.

Results: Seventy studies (1564 patients; predominantly case series) were included. Airway findings included choanal atresia (reported across 58 studies; unilateral 15.4%, 95% CI 11.6‐19.2; bilateral 31.5%, 95% CI 23.3‐39.7), laryngomalacia (8 studies; 27.7%, 95% CI 16.3‐28.1), and tracheostomy (13 studies; 23.6%, 95% CI 16.9‐27.5). Olfactory abnormalities were reported in 15 studies (28.8%, 95% CI 14.7‐42.9). Craniofacial findings included facial palsy (39 studies; 35.2%, 95% CI 29.8‐40.7) and cleft lip/palate (43 studies; 25.6%, 95% CI 23.1‐28.2). Otologic abnormalities were frequent, including chronic otitis media with effusion (11 studies; 54.5%, 95% CI 48.4‐60.7), semicircular canal hypoplasia/aplasia (29 studies; 73.6%, 95% CI 59.9‐85.2), cochlear hypoplasia (26 studies; 49.8%, 95% CI 37.4‐62.2), cochlear nerve hypoplasia (13 studies; 49.1%, 95% CI 34.4‐63.8), and sensorineural hearing loss (27 studies; 56.9%, 95% CI 52.7‐61.1).

Conclusion: CS is associated with a substantial ENT disease burden extending beyond choanal atresia, including frequent airway compromise, olfactory dysfunction, craniofacial anomalies, and vestibulocochlear malformations. Early, comprehensive multidisciplinary assessment with otolaryngology involvement is warranted.

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Cite

BibTeXRIS
BibTeX
@article{caron2026charge,
  title = {{CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis}},
  author = {Camille Caron and Massil Badji and Camille Prigent and Alix Pincivy and Erika Mercier and Mathieu Bergeron},
  journal = {Otolaryngology--Head and Neck Surgery},
  year = {2026},
  month = jul,
  doi = {10.1002/ohn.70346},
  url = {https://doi.org/10.1002/ohn.70346},
  note = {CC BY-NC-ND 4.0},
}
RIS
TY  - JOUR
TI  - CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis
AU  - Camille Caron
AU  - Massil Badji
AU  - Camille Prigent
AU  - Alix Pincivy
AU  - Erika Mercier
AU  - Mathieu Bergeron
PY  - 2026
DA  - 2026/07/28
JO  - Otolaryngology--Head and Neck Surgery
DO  - 10.1002/ohn.70346
UR  - https://doi.org/10.1002/ohn.70346
AB  - Objective: To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management.  Data Sources: PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.  Review Methods: This systematic review and proportional meta‐analysis adhered to PRISMA guidelines. Screening and extraction were performed (January‐May 2025) by 2 independent reviewers using a standardized template. Pooled prevalence estimates were generated using random‐effects models with 95% confidence intervals (CIs);heterogeneity was assessed with I 2. Study quality was assessed with the Newcastle‐Ottawa Scale.  Results: Seventy studies (1564 patients; predominantly case series) were included. Airway findings included choanal atresia (reported across 58 studies; unilateral 15.4%, 95% CI 11.6‐19.2; bilateral 31.5%, 95% CI 23.3‐39.7), laryngomalacia (8 studies; 27.7%, 95% CI 16.3‐28.1), and tracheostomy (13 studies; 23.6%, 95% CI 16.9‐27.5). Olfactory abnormalities were reported in 15 studies (28.8%, 95% CI 14.7‐42.9). Craniofacial findings included facial palsy (39 studies; 35.2%, 95% CI 29.8‐40.7) and cleft lip/palate (43 studies; 25.6%, 95% CI 23.1‐28.2). Otologic abnormalities were frequent, including chronic otitis media with effusion (11 studies; 54.5%, 95% CI 48.4‐60.7), semicircular canal hypoplasia/aplasia (29 studies; 73.6%, 95% CI 59.9‐85.2), cochlear hypoplasia (26 studies; 49.8%, 95% CI 37.4‐62.2), cochlear nerve hypoplasia (13 studies; 49.1%, 95% CI 34.4‐63.8), and sensorineural hearing loss (27 studies; 56.9%, 95% CI 52.7‐61.1).  Conclusion: CS is associated with a substantial ENT disease burden extending beyond choanal atresia, including frequent airway compromise, olfactory dysfunction, craniofacial anomalies, and vestibulocochlear malformations. Early, comprehensive multidisciplinary assessment with otolaryngology involvement is warranted.
SN  - 0194-5998
SN  - 1097-6817
ER  -