Treacher Collins Syndrome

Treacher Collins syndrome (TCS) is a rare genetic disease that affects craniofacial development. Researchers estimate that it occurs in approximately 1 in 50,000 live births. The disorder results in distinctive physical features including downward-slanting eyes, hypoplasia of the lower jaw, and malformed or missing ears. These physical anomalies may cause hearing, eating, vision, and breathing problems. There is no single treatment for TCS. Management is dependent upon the extent of the signs and symptoms and should be tailored to the specific needs of each patient. A multidisciplinary approach, ranging from speech therapy to reconstructive surgery, is generally needed.