Treacher Collins Sydrome:


In 1900 a British ophthalmologist described two patients with this condition, and as a result this syndrome now bears his name. Treacher Collins syndrome has been shown to occur with the same frequency in boys and girls. Currently, no one knows what causes this condition to occur. In over 60% of cases both the mother and father of a child born with Treacher Collins syndrome have normal genes, and the mother does "everything right" during her pregnancy. The process of bringing genes together from a mother and father is quite complicated. Once in awhile, a gene can be changed in the process. If this occurs it the "right" gene, Treacher Collins syndrome results. This gene has been identified and is sometimes called the "Treacle gene." This gene is located on chromosome 5q. The chances of having a child with Treacher Collins syndrome are about 1 in 10,000 births. Treacher Collins syndrome can be inherited, and is transmitted in what geneticists call an "autosomal dominant pattern." This means that if a child affected with Treacher Collins syndrome decides to have children when he or she is grown, there is a 50% chance of having a baby who also has Treacher Collins syndrome. In the very near future, it will be possible for individuals who have this syndrome, to elect to not pass on this trait. However, in order to do this, it will be necessary to undergo in-vitro fertilization and select embryos that do not have the gene for implantation.

Physical Traits