Mandibulofacial Dysostosis (Treacher Collins Syndrome): Aetiopathogenesis, Clinical Features and Multidisciplinary Management

Treacher Collins syndrome (TCS) is a rare genetic disorder caused by mutations in TCOF1, POLR1C, POLR1D or POLR1B, which trigger neural crest cell apoptosis and bilateral craniofacial malformations of the branchial arches. Key clinical manifestations include malar and mandibular hypoplasia, microtia, hearing impairment, and severe dental anomalies such as tooth agenesis, malocclusions, and elevated caries risk. The resulting anatomical narrowing frequently causes severe upper airway obstruction and complicates anesthetic airway management. Optimal outcomes rely on an early, coordinated multidisciplinary approach—integrating vital airway interventions, staged reconstructive surgeries, mandibular distraction osteogenesis, and proactive pediatric dental care to restore function, aesthetics, and long-term quality of life.