Noonan Syndrome

***Our little buddy was born with a rare form of a genetic condition called Noonan Syndrome.  We are learning more about Parker’s condition everyday.

Totally copy and pasted info on NS: 💙❤️

Some of the cardinal features of Noonan syndrome include unusual facies (like hypertelorism, down-slanting eyes, webbed neck), congenital heart disease , short stature, and chest deformity. Around 25% of individuals with Noonan syndrome have mental retardation. Bleeding diathesis is present in as many as half of all patients with Noonan syndrome. Skeletal, neurologic, genitourinary, lymphatic, eye, and skin findings may be present to varying degrees.

Approximately 50 percent of individuals with Noonan syndrome have mutations in the PTPN11 gene. Mutations in the SOS1 gene are seen in 20 percent of those with Noonan syndrome. Mutations in the RAF1 gene account for between 10 and 15 percent of Noonan syndrome cases. 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 unknown.

If you are researching Noonan Syndrome for your own child, family, friend, or just curiosity I have listed a few websites that have been very helpful to me.  Please take a look at these sites and I pray you get the answers you so desire.

www.noonansyndrome.org

www.ncbi.nlm.nih.gov

https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/symptoms-causes/syc-20354422

http://www.teamnoonan.org

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