Babies Born Without a Face: A Look into the Rare Disease Treacher Collins Syndrome

People are heavily judged by their appearance. It is hard for people to look at someone and not draw conclusions about them. Imagine now that a person is missing large portions of their face. People are going to look at these people really funny. A person with Treacher Collins syndrome has to deal with severe deformities of the face. These people are in a constant struggle to live a normal fulfilling life while dealing with the judgment of others.

This disease was first described by English surgeon Edward Treacher Collins. It is a rather rare genetic disease as it only occurs in about 1 in every 10,000 births. The symptoms of this disease are an abnormal to almost completely absent external ear, hearing loss, very small jaw, very large mouth, defect in the lower eyelid, scalp hair extends onto cheeks, and cleft palate.

These people have eyes that slant downwards and defects in the middle ear. The people who have this disorder have underdeveloped facial bones that give them an appearance of having no face. The disorder is inherited as an autonomic-dominant trait. The defective gene that is thought to cause this disorder is called treacle. There is a 50% chance of a child having the disorder if one of the parents has it. Most of the people who sufferer from this disorder are of normal intelligence. A lot of these people grow on and live normal functioning adult lives.