Treacher Collins Syndrome is a condition that leads to defects of the face. It affects about one in 10,000 babies and is generally hereditary but can also be caused by a gene mutation. The underlying cause of this is a defective protein called treacle. Treacher Collins Syndrome is often diagnosed at birth. Some cases are significantly more severe than others.
There are several characteristic features of Treacher Collins Syndrome. The affected gene controls development of bones in the head and neck, meaning people with Treacher Collins Syndrome may have eyes that slant downwards, a small lower jaw, a very large mouth and underdeveloped cheekbones. Ears are often small, malformed or even missing. This can lead to substantial hearing problems which may impact on learning for children, meaning hearing aids are necessary. Visual problems can also occur, as another symptom is coloboma, which affects the eyelids. Nevertheless, most sufferers have normal levels of intelligence and will lead normal lives.
Since Treacher Collins Syndrome is a genetic condition, it can not be cured. However, reconstructive surgery can be undertaken to build up cheekbones and the jaw. This can be cosmetic but may also assist with breathing difficulties that sometimes arise for people with Treacher Collins Syndrome. It is a good idea to discuss the condition with medical professionals and genetic counsellors.
Comments and Questions
Comments & Questions are now archived, but if you see anything on the site that worries you, please report it and one of our moderators will look at it as soon as possible.
Please note: Unfortunately Channel 4 cannot respond to individual inquiries. If you have any concerns, you can check out NHS Choices, but ultimately it is always best to check with a health professional.
The information provided on this website (including any NHS Choices medical information) is for use as information or for educational purposes only and is not a substitute for professional medical care by a qualified doctor or other qualified healthcare professional. We do not warrant that any information included within this site will meet your health or medical requirements. This Embarrassing Bodies site does not provide any medical or diagnostic services so you should always check with a health professional if you have any concerns about your health.