CHARGE Syndrome: What an Otolaryngologist Should Know-A Systematic Review and Meta-Analysis.
Camille Caron, Massil Badji, Camille Prigent et al.
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In 30 seconds
This PRISMA-guided systematic review and proportional meta-analysis pooled otolaryngologic manifestations of CHARGE syndrome from 70 studies involving 1,564 patients, predominantly reported in case series. Findings spanned airway, olfactory, craniofacial and otologic domains. The most prevalent pooled finding reported was semicircular canal hypoplasia or aplasia, at 73.6% (95% CI 59.9-85.2); sensorineural hearing loss was reported in 56.9% (95% CI 52.7-61.1), and chronic otitis media with effusion in 54.5% (95% CI 48.4-60.7). The authors conclude that the disease burden extends well beyond choanal atresia.
Key findings
- Semicircular canal hypoplasia or aplasia was reported in 73.6% (95% CI 59.9-85.2).
- Sensorineural hearing loss was reported in 56.9% (95% CI 52.7-61.1), and chronic otitis media with effusion in 54.5% (95% CI 48.4-60.7).
- Choanal atresia estimates were 15.4% (95% CI 11.6-19.2) for unilateral and 31.5% (95% CI 23.3-39.7) for bilateral cases.
- Facial palsy was reported in 35.2% (95% CI 29.8-40.7), and olfactory abnormalities in 28.8% (95% CI 14.7-42.9).
Why it matters
The pooled findings show that CHARGE syndrome is associated with a broad ENT burden, including airway compromise and frequent vestibulocochlear abnormalities, rather than an isolated choanal problem. Recognising this range can inform comprehensive assessment across relevant domains and support coordinated care for affected patients.
What to keep in mind
The evidence was predominantly from case series, and estimates were pooled across studies with varying numbers of contributing reports; the abstract reports heterogeneity assessment but not its results.