The Effects Of Treacher Collins Syndrome
Treacher Collins Syndrome is a rare incurable genetic disorder that most often affects the jaw, cheekbones, eyes, chin, and ears. It was identified dating all the way back to Ancient Rome, however, research as to what exactly it was and the causes of TCS was not studied until the 1800s by an English ophthalmologist named Edward Treacher Collins. In 1884, he began an internship at the Royal London Ophthalmic Hospital, a position which later was turned into a career that lasted about 48 years. During the 48 years Collins resided at Royal London Ophthalmic Hospital, he was primarily positioned as the pathologist and curator of the hospital's facilities museum. Collins witnessed several people with the deformities and became extremely interested about the disorder, which began his research on it, but did not describe the genetic disorder in medical literature until 1900.
Symptoms of TSC are listed as: speech delay in a child, airway obstruction, difficulty swallowing, hearing loss, vision loss, or snoring. However, TCS victims have normal development and intelligence. Although Treacher Collins Syndrome must be medically diagnosed, the signs of someone having said disorder may have physical deformity, cleft palate, failure of teeth to develop normally, …show more content…
About 50% of the time when a baby is diagnosed before or after they're born, a parent is a carrier or is also affected by Treacher Collins Syndrome. Mutations in the TCOF1, POLR1C, and/or POLR1D gene normally cause Treacher Collins syndrome. The TCOF1 gene are the most common mutation cause of the disorder, causing it in 81 to 93 percent of all cases. POLR1C and POLR1D genes mutations, however, only cause 2 percent of cases. In individuals without an known mutation in one of these genes is accounted for as
Treacher Collins Syndrome is a rare incurable genetic disorder that most often affects the jaw, cheekbones, eyes, chin, and ears. It was identified dating all the way back to Ancient Rome, however, research as to what exactly it was and the causes of TCS was not studied until the 1800s by an English ophthalmologist named Edward Treacher Collins. In 1884, he began an internship at the Royal London Ophthalmic Hospital, a position which later was turned into a career that lasted about 48 years. During the 48 years Collins resided at Royal London Ophthalmic Hospital, he was primarily positioned as the pathologist and curator of the hospital's facilities museum. Collins witnessed several people with the deformities and became extremely interested about the disorder, which began his research on it, but did not describe the genetic disorder in medical literature until 1900.
Symptoms of TSC are listed as: speech delay in a child, airway obstruction, difficulty swallowing, hearing loss, vision loss, or snoring. However, TCS victims have normal development and intelligence. Although Treacher Collins Syndrome must be medically diagnosed, the signs of someone having said disorder may have physical deformity, cleft palate, failure of teeth to develop normally, …show more content…
About 50% of the time when a baby is diagnosed before or after they're born, a parent is a carrier or is also affected by Treacher Collins Syndrome. Mutations in the TCOF1, POLR1C, and/or POLR1D gene normally cause Treacher Collins syndrome. The TCOF1 gene are the most common mutation cause of the disorder, causing it in 81 to 93 percent of all cases. POLR1C and POLR1D genes mutations, however, only cause 2 percent of cases. In individuals without an known mutation in one of these genes is accounted for as