Treacher Collins syndrome: current and emerging treatment options

Abstract

Treacher Collins syndrome is a rare congenital disorder characterized by bilateral craniofacial malformations, including mandibular and zygomatic hypoplasia, cleft palate, and eye anomalies, resulting in significant variability in symptom severity. The syndrome, with an incidence of approximately 1 in 50,000 births, is primarily caused by mutations in the TCOF1 gene and less frequently by mutations in POLR1C and POLR1D genes, disrupting ribosome biogenesis crucial for craniofacial development. Clinical manifestations encompass diverse craniofacial, auditory, and skeletal abnormalities, often leading to airway complications and hearing loss. Management involves a multidisciplinary approach, combining surgical interventions such as mandibular distraction osteogenesis and orthognathic surgeries with advanced imaging techniques for precise planning. Hearing loss is managed with bone conduction aids and cochlear implants, although outcomes may vary due to associated anomalies. Genetic testing aids in diagnosis and family planning decisions, while emerging therapies like genome editing and regenerative medicine show promise for future treatments. Despite challenges in long-term management and relapse rates in surgical corrections, ongoing research aims to enhance therapeutic efficacy and patient outcomes, emphasizing the need for tailored treatment strategies addressing both functional and aesthetic aspects.