Otorhinolaryngological Manifestations of Treacher Collins Syndrome: A Systematic Review

BackgroundTreacher Collins syndrome (TCS) is the most common form of mandibulofacial dysostosis. Despite the large number of case reports, no study has focused on ENT patterns and their functional impact. This study aimed to systematically review the ENT manifestations, diagnostic approaches, and clinical outcomes in TCS case reports and series from 2000 to 2025.MethodsPubMed, Web of Science, and Google Scholar were searched from inception to September 2025. Case reports and series reporting ENT findings in clinically or genetically confirmed TCS were included. Quality was assessed using the JBI checklist.ResultsForty-six case reports encompassing 49 patients were included. Most patients were pediatric, with male patients comprising 59% of reported cases. Ear anomalies were the most commonly reported finding among the included cases (82%), dominated by external auditory canal atresia, microtia, and ossicular malformation, with conductive hearing loss as the leading functional sequel. Abnormalities of the oral cavity were reported in 59% of patients, with high-arched palate, cleft palate, macrostomia, and glossoptosis resulting in frequent feeding and speech issues. Nasal anomalies were reported in 37%, most commonly a prominent nasal bridge. Airway compromise was clinically significant.ConclusionENT manifestations in TCS are frequent, functionally important, and heterogeneous. Early multidisciplinary assessment targeting hearing, airway, and orofacial function is essential to optimize long-term outcomes.