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Laurel Hohenwarter Biology 1 honors 1st Block Ms. Beatty = Treacher Collins syndrome =


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Introduction:** The disease i chose is called Treacher Collins syndrome. It is also known as TCS, Franceschetti-Zwahlen-Klein syndrome, Mandibulofacial dysostosis (MFD1), Treacher Collins-Franceschetti syndrome, or zygoauromandibular dysplasia. TCS affects the development of the facial bones and tissue.

TCS has an autosomal dominant pattern of inheritance. This means that one copy of the altered gene in each cell can cause this disorder. About 60 percent of cases result in a mutation of the TCOF1 gene and occur in people that have no history of TCS in their family. In other cases, people can get TCS from an affected parent. The only two ways you can get TCS is by a mutation of the genes or you receive a gene from a parent who has the disease. Your child can get TCS even though it seems like the parent doesn't have it. Then you know either the mother or father has a mild case of TCS.
 * Inheritance:**

TCS can be found in 1 of every 50,000 people. The signs of TCS can be mild or can be very severe. Most victims have underdeveloped cheek bones and/or a very small chin and jaw. Some people are born with an opening in the roof of the mouth called a cleft palate. This can cause potential life-threatening respiratory problems. People with TCS often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids. Some people have other eye abnormalities that can cause vision lose. This condition also characterizes small or absent ears which can cause some hearing lose. Usually people who have TCS have normal intelligence. Some children with TCS can have problems with their hands where the thumbs are very small or absent. Many people can still live average lives with Treacher Collins syndrome.
 * Description:**

Treatment can involve testing for and treating any hearing loss. Also, checking for any vision loss. Plastic surgery can treat defects on the face and hands. They do this treatment for kids to act normal in school.
 * Treatment:**



Sometimes a child can be diagnosed with TCS when they haven't been born yet because of abnormal facial features seen during an ultrasound. For a diagnosis after birth, a doctor will examine the child. Sometimes an examination is all that is needed to detect TCS. Other times a doctor may take x-rays or a CT scan after an examination. You can detect a carrier of TCS if they have any facial deformities.
 * Detection:**

(Fetus with micrognathia.)

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