Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2026
CHARGE Syndrome: What an Otolaryngologist Should Know-A Systematic Review and Meta-Analysis.
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Caron Camille, Badji Massil, Prigent Camille, Pincivy Alix, Mercier Erika, Bergeron Mathieu
Аннотация
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 I2. 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.
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 I2. 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.