Treacher Collins Syndrome
Hi, this is all about Treacher Collins Syndrome. I am doing this because this is the disorder that Auggie has from the book wonder we are reading in class and we did different little things when we were done the book from the wonder choice bored my teacher made. Now let’s get into my project on Treacher Collins Syndrome /TCS.
Treacher Collins syndrome (TCS) is a rare condition. Babies who have it are born with deformed ears, eyelids, cheekbones, and jawbones. There is no cure, but surgery can make a big difference. The condition is caused by an abnormal gene that affects how the face forms. Treacher Collins syndrome (TCS) affects the way the bones of the face develop before a baby is born. This can impact many things, though children with TCS typically have normal intelligence and life expectancy.
Treacher Collins syndrome is caused by mutation of the genes TCOF1, POLR1B, POLR1C, or POLR1D. Genetic diseases are determined by the combination of genes for a certain trait that is on the chromosomes received from the father and the mother. In approximately 60% of TCS patients, the mutation is a new mutation that occurs spontaneously without a previous family history of the disorder.
TCS affects males and females in equal numbers. The prevalence is estimated to be between 1 in 10,000-50,000 individuals in the general population. It also affects about one out of every 50,000 babies born. Treacher Collins syndrome is always genetic but usually isn’t inherited seeing as about 60% of the children who get it, neither parent carries the gene. For them, the chances of passing it along to another child are very small.
Infants with Treacher Collins syndrome show underdeveloped or absent cheekbones, causing this area of the face to appear flat or sunken. The bone of the lower jaw is incompletely developed, causing the chin and the lower jaw to appear abnormally small.
https://rarediseases.org/rare-diseases/treacher-collins-syndrome/
https://kidshealth.org/en/parents/tcs.html
https://www.webmd.com/children/autosomal-recessive-disease