Principles of Biology 1114
April 19, 2013
Mostly everyone in the world has heard of some type of genetic disorder. But most people haven’t even heard or understand about Noonan Syndrome. Noonan syndrome is a genetic disorder characterized by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, and bleeding difficulties. Noonan syndrome affects a good percent of the world and may happen to anyone. Noonan syndrome has many key symptoms and very few certain treatment options. Noonan syndrome used to be referred to as the male version of Turner's syndrome (and is still sometimes described in this way); however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features of Noonan disorder include congenital heart defect (typically pulmonary valve stenosis) also ASD, hypertrophic cardiomyopathy, short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge. The syndrome is named after Dr. Jacqueline Noonan. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS-MAPK pathway, leading to pathway deregulation. Noonan syndrome is a relatively common genetic disorder with an estimated prevalence of 1 in 1000 to 1 in 2500 births.
If someone knows enough about this disorder, they may be able to spot them out. However, people who have Noonan syndrome have problems not only on the outside but mainly on the inside. Noonan patients have to battle a lot mainly when it comes to their heart. Cardiomyopathy is more than fifty percent of the problem and the main reason of death. To explain for a moment, Cardiomyopathy can cause heart failure and sudden cardiac death. Not only do they have to worry about cardiomyopathy, they have atrial septal defect (ASD). ASD...