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Noonan Syndrome - Coggle Diagram
Noonan Syndrome
SYMPTOMS:
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Developmental delay of varying degrees, but usually mild
In males, undescended testes (cryptorchidism)
Early intervention programs are used to help with developmental disabilities, when present. Bleeding problems that can be present in Noonan syndrome may have a variety of causes and are treated according to their cause
Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage.
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.
The cause of Noonan syndrome in the remaining 10 to 15 percent of people with this disorder is not yet known.
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Growth problems may be caused by lack of growth hormone and may be treated with growth hormone treatment. Symptoms such as heart problems are followed on a regular basis.
PTPN11, SOS1, RADF1 and KRAS - are the only genes that are known to be associated with Noonan syndrome
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Approximately 50 percent of individuals with Noonan syndrome have mutations in the PTPN11 gene. Twenty percent of those with Noonan Syndrome have mutations in the SOS1. Mutations in the RAF1 gene account for between 10 and 15 percent of Noonan syndrome cases.