Work

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

Year: 2026

Type: review

Study designs: Systematic Review, Meta-Analysis

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.

Source: Otolaryngology

DOI: 10.1002/ohn.70346

Authors: Camille Caron, Massil Badji, Camille Prigent, Alix Pincivy, Erika Mercier, Mathieu Bergeron