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Noonan Syndrome is a Genetic disorder that affects multiple areas of the body, including facial structure, height, heart defects, and skeletal structure, along with many other symptoms.

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There are a variety symptoms associated with Noonan Syndrome. In most cases these symptoms are physical, most not having intellectual disabilities. some characteristics that can be expected are:
Irregular Facial features; some common facial abnormalities; wide set eyes, backward rotated lowset ears, a flat bridged nose with a wide base, a high arch in the roof of the mouth with misalighned teeth and a smaller lower jaw, the skin on the face may appear wrinkled due to extra skin and become more transparent with age. Due to size of facial features to the head, the head may appear larger than normal.
Growth Defects; Future parents can expect their child to have normal weight and length, but growth is expected to slow over time which is why 50% to 70% of people with Noonan Syndrom have short stature. Growth during puberty and bone maturity may also be delayed further adding to these issues, and eating difficulties can cause problems as well.
Heart defects; Most people with Noonan Syndrome have Critical congenital heart disease in some form. these heart diseases are present from birth varying in severity and having different impacts on the indivisual. Valve disorders, specifically Pulmonary valve stenosis are the most common heart defect associated with the genetic disorder. other problems include but are not limited to; iregular heartbeat rythym, hypertrophic cardiomyopathy: a abnormal thickening of the heart muscle that enlarges but weakens the heart.
Other defects; Other defects associated with NS include; Musculoskeletal issues, such as a deformed spine, a short webbed neck, and a sunken or raised sternum. other less common defects are; Hearing problems, varying kinds of eye conditions, excessive bleeding, Lymphatic problems, and Genital, fertility and puberty problems. people with NS are also 8x more likely to develop leukemia or other cancers.

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Although there is no way to prevent the disorder due to the fact it can apprear from to family genes or occur spontaneously, there is many treatments that can help to manage the disese and its effects. Drugs, and in some cases, surgery are effective in some of the heart defects. Growth hormone therapy is a option for treating growth defects. drugs to help blood clot can be used for problems with bleeding and bruising. problems with vision and hearing, Lymphatic problems, learning disabilities and surgery for undescended testicles are also options for parents in combating effects of the disease.
Due to there being so many problems associated with Noonan Syndrom the severity of different problems may vary along with their treatments. complications can also arise depending on severity as well.

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as previously stated there is no way to completely prevent NS, as it can occur spontaneously, though, children with one parent containing the disease have a 50% chance of developing it themselves. Molecular genetic testing can detect the disorder if your family has history of the disease, but this can only lessen complications and not cure it. finding support for your child and family, and the right doctors to treat the person containing the disease is the best way to control it.

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chromosome associated  with Noonan Syndrome

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chromosome associated  with Noonan Syndrome

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Noonan Syndrome is associated with the PTPN11 gene on chromosome 12. the gene provides instructions to make protein SHP-2 used to regulate the  RAS/MAPK signaling pathway. "This pathway is involved in several important cell functions, including the growth and division of cells (proliferation), the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis)" (nih.gov). Noonan Syndrome turns on this protein continuously rather then it switching on and off under normal function.The RAS/MAPK signaling pathway is therefore disrupted causing the defects associated with the disease.