Noonan Syndrome
Julia Tran
Ms. Johnson
Biology CP
05 March 2013
Noonan Syndrome
Noonan syndrome is a genetic disorder that was once known as Turner-like syndrome. It is a mutation of several genes where they develop proteins that are continuously active; which ends up disrupting the control of the cells growth and division resulting in abnormal developments of the body. Noonan syndrome can affect a person's physical appearance in multiple ways, along with their mental state of mind. This syndrome equally affects males and females. Noonan syndrome was first medically discovered in 1963 and found by a cardiologist named Jacqueline Noonan. Dr. Noonan studied over more than 800 patients while she was attending the University of Iowa. She noticed that her patients had congenital heart disease at that time and tried to find other abnormalities with in the patients. She noticed that a hand full of her patients that had congenital heart abnormality also had facial defects, excessive webbing, short height, and eyes too wide apart. A former student of Dr. Noonan, Dr. John Opitz started calling this genetic disorder "Noonan Syndrome" after seeing children whom Dr. Noonan had described previously. There is no indication as to who was first diagnosed with Noonan syndrome, but it was said that Dr. Noonan recognized several patients with multiple symptoms showing the genetic disorder in 1963.
As of right now there are no specific tests to determine whether a person has Noonan Syndrome or not, but it is based on key physical features. Some of these features include, excessive webbing on neck, eyes being too far apart, low set of ears, and a few series of genetic testing. The doctors will evaluate the patient's sense of hearing, sight, and physical structure. They will also run tests dealing with the nervous system and of the genes. Platelet counts, and blood clotting factor tests will also be ran. Noonan syndrome can be hard to be identified so it is possible that the genetic
Ms. Johnson
Biology CP
05 March 2013
Noonan Syndrome
Noonan syndrome is a genetic disorder that was once known as Turner-like syndrome. It is a mutation of several genes where they develop proteins that are continuously active; which ends up disrupting the control of the cells growth and division resulting in abnormal developments of the body. Noonan syndrome can affect a person's physical appearance in multiple ways, along with their mental state of mind. This syndrome equally affects males and females. Noonan syndrome was first medically discovered in 1963 and found by a cardiologist named Jacqueline Noonan. Dr. Noonan studied over more than 800 patients while she was attending the University of Iowa. She noticed that her patients had congenital heart disease at that time and tried to find other abnormalities with in the patients. She noticed that a hand full of her patients that had congenital heart abnormality also had facial defects, excessive webbing, short height, and eyes too wide apart. A former student of Dr. Noonan, Dr. John Opitz started calling this genetic disorder "Noonan Syndrome" after seeing children whom Dr. Noonan had described previously. There is no indication as to who was first diagnosed with Noonan syndrome, but it was said that Dr. Noonan recognized several patients with multiple symptoms showing the genetic disorder in 1963.
As of right now there are no specific tests to determine whether a person has Noonan Syndrome or not, but it is based on key physical features. Some of these features include, excessive webbing on neck, eyes being too far apart, low set of ears, and a few series of genetic testing. The doctors will evaluate the patient's sense of hearing, sight, and physical structure. They will also run tests dealing with the nervous system and of the genes. Platelet counts, and blood clotting factor tests will also be ran. Noonan syndrome can be hard to be identified so it is possible that the genetic