Genetic Disorder- Noonan Syndrome
Noonan syndrome was first recognized as a unique entity in 1963 when Noonan and Ehmke described a series of patients with unusual faces and multiple malformations, including congenital heart disease. Noonan syndrome is a disease that is not caused by malformations or missing chromosomes. In Noonan syndrome the component that is being affected are four genes. Four genes - PTPN11, SOS1, RADF1 and KRAS - are the only genes that are known to be associated with Noonan syndrome; 50% of individuals with Noonan syndrome have a defect in the PTPN11 gene, 20% with the mutation defect is SOS1, mutations in RADF1 is approximately 10 and 15% have Noonan syndrome, about 5 percent of people with Noonan syndrome have mutations in the KRAS gene and usually have a more severe or atypical form of the disorder. Noonan syndrome can also occur with a spontaneously, meaning there's no family history involved (Mayo Clinic staff, 2013).
Noonan syndrome is the most common disease that you never heard of. Noonan syndrome is a disease that occurs often with approximately 1 to 2500 people (Genetic home reference, 2011). The onset of Noonan syndrome is hard to tell because the disorder is there at birth, but age impacts the facial genotype. The phenotype becomes more striking in early childhood, but with advancing age, it may again become quite subtle. Careful examination of an affected child's parents may in fact reveal that they are mildly affected. The life expectancy is the same unless you have serious heart conditions (Jennifer Ibrahim, 2013). The treatments for Noonan syndrome are different because it is accessed with which part of the disease you have. Heart problems are resolved the same way like the general population; early intervention programs are used to help with developmental disabilities,