Treacher Collins syndrome (TCS, mandibulofacial dysostosis) is a genetic disorder that affects the development of the skull and face. This condition results from a mutation or error in a person’s DNA or genes. Symptoms of TCS vary from individual to individual and can range from being almost unnoticeable to severe. People affected with this condition usually have downward slanting eyes, a small lower jaw, and absent or underdeveloped cheekbones and ears. They may also be born with an opening in the roof of the mouth, known as a cleft palate. About half of affected individuals experience hearing loss due to underdeveloped ear bones. In severe cases, infants may experience breathing problems due to underdeveloped breathing pathways and vision loss due to additional eye abnormalities.
People diagnosed with TCS usually have normal levels of intelligence. The condition affects about 1 in 50,000 people. TCS is an autosomal dominant disorder meaning that only one copy of the gene change (mutation) needs to be present for the person to be affected. In 40% of Treacher-Collins cases, one parent is affected. However, about 60% of the cases are due to new mutations in the gene without any previous cases of the disorder in the family history. Each child of an affected individual has a 50% chance of passing on the gene change and therefore TCS. Genetic testing and counseling can help identify gene changes linked to this condition. Treatment of TCS depends on the symptoms and challenges present. Hearing aids are usually given to assist the individuals with any hearing loss. Plastic and/or facial surgery may also be required to aid in any breathing and feeding problems. Although there is currently no cure for TCS, doctors seek help from various therapists and community services to provide support and care. Support groups are also good resources of support and information.