Treacher Collins SyndromeAKA Mandibulofacial Dysostosis or TCS

Bryanna C.Pd. 4

3/15/08

http://www.treachercollins.org

Mode of Inheritance

Treacher Collins is inherited in an autosomal dominant pattern. TCS is also believed to be an error on chromosome number 5 at the TCOF1 gene, which provides instructions for making a protein called treacle. Researchers believe that this protein plays a role in the formation of bones and other tissues in the face. A mutation in treacle can be one cause for TCS.

3a. How does TCS affect its victims?

Treacher Collins affects its victims in many different ways. People with TCS usually have hearing problems and this may affect the way they live their lives. Many patients with TCS are also born with cleft palates, which could affect how the victim eats. And, since Treacher Collins is a disorder that affects the face, patients also have to deal with the emotional pain of daily ridicule that he or she may endure.

3b. What is it like to have TCS?

Living with Treacher Collins would be very difficult and lonely. People with a severe case of TCS might have to undergo many surgeries to correct the numerous deformities caused by TCS. Someone with Treacher Collins would also have to deal with the comments or stares that he or she would receive many times throughout his or her life.

3c. What is TCS like externally, internally, biochemically, and

psychologically? Externally, Treacher Collins symptoms can range from barely noticeable to extremely severe. The most common effects of TCS are: eyes that slant downward away from the nose, a small jaw and chin, and small, abnormally shaped, or missing outer ears.www.geocities.com/hopeforachild/ http://www.experiencecorps.org/

news/releases/2004_5_24_Boston.html

http://nathanielsnewhorizon.org/_wsn/page2.html

3c. (continued)

Although Treacher Collins is mainly recognized as facial deformities, there are many internal problems that are caused by this disorder. A majority of people with TCS have hearing problems. These problems are usually caused by defects in the middle ear. Treacher Collins does not affect its victims biochemically. Treacher Collins can affect its victims psychologically because of the treatment he or she may receive from other individuals.

3d. What are problems associated with TCS?

As I mentioned earlier, there are many other problems that Treacher Collins causes. The main ones are hearing loss and cleft palates.

www.tracheostomy.com/trachkids/kids16/bianca.htmwww.figure8films.tv/shows/tcs.htm

3e-g. Is TCS limiting? Is it fatal? Does it affect any particular group?Treacher Collins is not physically

limiting. It also does not affect the intelligence of someone with this disorder. Treacher Collins is usually not fatal. People with TCS usually live full lives. There is no research to suggest that Treacher Collins affects any particular group.

4a-c. What can be done for TCS? Can the defects be treated? Can the results be treated?

There are various surgeries that can be performed to correct the defects caused by Treacher Collins. Surgery can be used to correct cleft palates and to reconstruct the jaw bones of a patient’s face. The hearing loss can be treated by using a special hearing aid called a bone-anchored hearing appliance or BAHA. The BAHA is surgically implanted behind the ear and is connected to the skull. The BAHA uses vibrations in order to help the patient hear.

4d-e. Is there a cure for TCS? What about gene therapy?

There is no cure for Treacher Collins. There is no gene therapy, either.

www.craniofacial.net/microtia.htm

http://www.craniofacial.net/treacher_collins_syndrome.htm

5a-c. Can TCS be detected before symptoms appear? Can it be detected inside the mother’s womb? What about detecting a carrier?

Treacher Collins can be detected at birth because of the deformities it causes to a baby’s face. In severe cases of Treacher Collins, the disorder can be detected while the baby is still in the mother’s womb using ultrasonography. There appears to be no way to detect a carrier of Treacher Collins.

Bibliography•Treacher Collins syndrome. Genetics Home Reference. Dec. 2006 <http://ghr.nlm.nih.gov/condition=treachercollinssyndrome>

•Treacher Collins Syndrome. Cleft Palate Foundation. 15 Mar. 2008 <http://www.cleftline.org/publications/treacher_collins>

•Treacher Collins. California Ear Institute. 5 Sept. 2007 <http://www.atresiarepair.com/conditions-treatments-treacher-collins-atresia-repair-doctor.htm?>

•Mandibulofacial Dysostosis. eMedicine. 12 Mar. 2007 <http://www.emedicine.com/PED/topic1364.htm>