Treacher Collins syndrome

Treacher Collins disease is a rare, congenital, craniofacial condition affecting bones, jaws, skin, and muscles of the face. This disorder is caused by a mutation in the gene on chromosome 5. This chromosome affects facial development. This mutation can appear new or be passed on. A person with Treacher Collins has a 50/50 chance of passing it on to their offspring. This disorder comes along with many symptoms such as small or missing ears, no ear canals, missing brow and cheek bones, speech and

Treacher Collins Syndrome was first documented on paper and named after by Edward Treacher Collins in the 1900s’ in Europe. Collins died in 1932 at the age of 70. Collins work was later brought up by Adolphe Franceschetti and David Klein who came across the same conditions but classified and named it as mandibulofacial dysostosis. This was discovered before Collins had written about it by Thomson and Toynbee in 1846-1847 and later by Berry (1889). TCS is defined as an inherited condition in which

gene would not affect a female child because paired with her father’s gene the trait would remain recessive. Genetic hearing loss can be seen in several syndromes, in which hearing loss can be a result of the syndrome; examples of this are Down syndrome (an extra copy of chromosome 21), Usher syndrome (autosomal recessive), and Treacher Collins syndrome (autosomal dominant). These are not the only examples, but just a few of them. Besides genetic factors, there are other causes of congenital hearing

In the book Wonder written by Raquel J. Palacio the main character Auggie Pullman struggles with Mandibulofacial Dysostosis other wise known as Treacher Collins Syndrome causing serious health problems and facial deformities. Auggie has been homeschooled due to his complicated health issues and the rigorous surgery schedule that comes with it. But by the time August turns ten, his parents are beginning to think about the big picture and his future. They have realized that Auggie not only needs to

R.J Palacio said, “I honestly don't believe that empathy is something that can be taught. It can only be inspired.” Palacio’s real name is Raquel Jaramillo. She attended the High School of Art and Design in New York. Before she wrote the book Wonder, she designed book covers for a lot of book writers including Judy Blume. R.J Palacio was born on July 13,1963 in New York City. She grew up in Flushing [Queens] New York; she currently lives in Brooklyn, NY with her husband and two kids Calub and

August Pullman is starting Middle School-his first time going to real school ever. To make matters matters even worse August Pullman isn't an ordinary kid. Read about this in R.J. Palacios bestselling novel Wonder. Auggie was born with Treacher Collins Syndrome-a syndrome affecting his face genes. He's gotten 27 surgeries since birth which is why he couldn't go to school until 5th grade. At first not everyone is nice to Auggie but by the end almost everyone learns to accept Auggie for who he is. By going

Microtia, a hearing disability SOC 313 Social Implications of Medical Issues August 31, 2012 What is Microtia? Microtia is an ear deformity where “one ear is affected (unilateral Microtia) but in about 10 percent of cases, both ears are affected (bilateral Microtia). Approximately one in 6,000 to 8,000 babies are born with Microtia. “(Cedars-Sinai, 2012) Microtia atresia “is absence or underdevelopment of the ear canal and middle ear structures”(Burt,2011). Microtia normally presents its

Wonder, by R.J. Palacio, told a story of a boy with the Treacher Collins syndrome, named August, and how he overcame the hardships of middle school. He was able to befriend everyone in his school, even those who bullied him, except for Julian. Julian was the only character in Wonder who didn’t learn about kindness because he was the main bully, he was influenced by his parents, and surviving middle school wouldn’t have been as big of an achievement for August. Firstly, the reason why Julian did

called Beecher Prep…must find more settings. The main character is the story is named August, which is nicknamed auggie by his family. He has a rare Medical condition which causes facial deformity. The medical condition that he has is called Treacher Collins syndrome and a cleft palate. August refers to the medical condition as “mandibulofacial dysostosis.” Summer

Earlier yesterday I received a message from a beautiful 22 year-old girl who also has Treacher Collins Syndrome - a craniofacial disorder. She writes me and says: "Hi Cynthia, I hope you are doing well; I would like to know if you think that men really pay attention to the details of a girl's history of intimate partners; I guess that I am really asking if you think a man would mind that I have never been in relationship?" I took an overwhelmingly heavy breath, gathered my thoughts and replied the