Treacher Collins syndrome (TCS) is a condition where some of the bones and tissues in the face aren’t fully developed. It is a rare genetic condition, and can range from relatively mild to very severe. The jaw, ears, eyelids and cheekbones can be affected.
In more severe cases, a child will have a very small jaw (mandible). Often times that can lead to breathing problems and can result in the need for a tracheostomy. Ear abnormalities can also occur, with small or malformed ears that cause severe conductive hearing loss. Eyelid abnormalities can include the inability to completely close the eyes. Intelligence in children with Treacher Collins syndrome is usually normal if there are no serious breathing problems.
This syndrome occurs in roughly one in 20,000 births.
TCS has symptoms similar to other disorders that are part of a larger group, called mandibulofacial dysostoses. Another large group, called acrofacial dysostoses, shares similar symptoms in addition to limb defects. Disorders that fall in this group include Nager syndrome, Miller syndrome, as well as others. The treatment approach is similar for all of these disorders. If you have been given one of these diagnoses for your child, the Treacher Collins Center has the expertise to treat all of these disorders.