8. Symptoms – How to Detect
The symptoms of the Treacher Collins Syndrome can be checked through the facial abnormalities that occur as a result of it. The most obvious of these is the shape of the lower eyelid; their eyes are slanting and their cheek bones and chin lacks normality. Auditory and visual impairment are usually a part of the syndrome. They may or may not have ears. If they do, they might be very small (this condition is known as microtia). Some individuals may have their ear canal missing; the condition is referred to as aural atresia. The overall structure of their face lacks normality. They do not have zygomas (cheek bones) at all, or they may appear to be very small. They may also not have brow bones; superior orbital rim. Their downward sloping eyes and macrostomia (wide mouth), may provide a clear indication that a child is affected by the syndrome. Apart from these usual cases, some may even have some sort of deformity in hands or fingers.
7. Who is Affected?
Roughly, one person among 50, 000 people may have a chance to be affected by the Treacher Collins Syndrome. Researchers believe that loss of protein causes faulty facial bone development. The condition is also hereditary in most cases; it is inherited through an autosomal dominant gene.