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CHARGE Syndrome: What an Otolaryngologist Should Know-A Systematic Review and Meta-Analysis
Camille Caron1, Massil Badji2, Camille Prigent3
1Department of Anesthesia, Université de Montréal, Montreal, Quebec, Canada.
Summary
CHARGE syndrome (CS) causes significant otolaryngologic issues beyond choanal atresia, including airway compromise and hearing loss. Early otolaryngology assessment is crucial for comprehensive management of these common ENT problems.
Area of Science:
- Otolaryngology
- Genetics
- Pediatrics
Background:
- CHARGE syndrome (CS) is a complex genetic disorder with diverse congenital anomalies.
- Otolaryngologic manifestations are common but their prevalence requires synthesis for effective management.
Purpose of the Study:
- To systematically review and synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome.
- To provide otolaryngologists with data to support comprehensive patient management.
Main Methods:
- Systematic review and proportional meta-analysis of studies from PubMed/MEDLINE, Embase, and Google Scholar (1980-2025).
- Adherence to PRISMA guidelines with screening and extraction by two independent reviewers.
- Pooled prevalence estimates generated using random-effects models; heterogeneity assessed with I².
Main Results:
- Seventy studies including 1564 patients were analyzed.
- High prevalence of airway issues (choanal atresia, laryngomalacia), olfactory dysfunction, and craniofacial anomalies (facial palsy, cleft lip/palate).
- Frequent otologic abnormalities noted, including chronic otitis media, semicircular canal malformations, cochlear hypoplasia, and sensorineural hearing loss.
Conclusions:
- CHARGE syndrome presents a significant burden of otolaryngologic disease, extending beyond choanal atresia.
- Airway compromise, olfactory dysfunction, craniofacial anomalies, and vestibulocochlear malformations are highly prevalent.
- Early, multidisciplinary assessment involving otolaryngology is essential for managing CS patients.
