Noonan Syndrome

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Noonan Syndrome
Noonan Syndrome
This syndrome prevents normal growth in many different areas of the body. Its showcased through malformations of the face and body, heart defects, bleeding problems and possible developmental issues.
Cause
Noonan Syndrome is caused by an autosamol dominant gene passed down by a parent that is a carrier. The genes that cause Noonan are: PTPN11, SOS1, RAF1, KRAS, NRAS, BRAF. Although 50% of cases are caused by PTPN11. 
Only 1 in 1,000 to 2,500 people have it.
Diagnosis
People with Noonan are diagnosed through their physical characteristics, such as facial features, and then a special will look into the genes of the patients and see if they are affected. 
Effects of Noonan
Many children with Noonan may have development issues, heart issues, and can have excessive bleeding. Males also have low sperm count. Noonan varies a lot so the effects depend on child to child. 
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