Treacher Collins Syndrome or TCS is a deeply impacting condition that influences the development of tissues and bones in the face. The symptoms and signs of the condition greatly vary and they range from unnoticeable to severe. Most of the people that suffer from this condition will have a very small chin and jaw. They may also be born with a cleft palate or an opening in the mouth’s roof. In the more severe cases, the facial bones may event restrict the airways of the affected, causing respiratory problems that may become life threatening.
The condition is rare and it only affects about one in fifty thousand people.
The symptoms of TCS are very easily noticeable. Some of them include abnormal looking, partially or fully missing outer part of the ear, scalp hair reaches the cheeks, coloboma, and a very large mouth.
TCS can be caused by various mutations in the POLR1D, POLR1C, and TCOF1 gene. The most common cause of the condition lies in the mutation suffered by the TCOF1 gene which accounts for anywhere between eighty one to ninety three percent of all cases. Mutations in the POLR1D and POLR1C genes are responsible for an extra 2% of cases. There are also cases when the mutation cannot be identified and in such cases, the genetic cause of the condition cannot be tracked.
Can TCS be cured?
Unfortunately, there is no cure for this condition. The condition is either caused by various genetic mutations at the time of conception or is inherited. To create a more normal appearance, the affected may undergo various types of surgeries. The surgeries can also help improve the person’s speech. While there is indeed no cure, in most cases the patient’s intelligence is normal.