Hello and Welcome to my awareness page for NS. Im Katie and I have NS. NS is a genetic condition called Noonan Syndrome. It took myself 26 years to get a diagnosis, 3 years to get a diagnosis for my son and 1 1/2 years for my daughter. In our case it is hereditary, meaning I had a 50% chance of passing it down to my children and now that they both have it, they have a 50% chance of passing it on to their children when they get older. It can also occur sporadically.
Noonan syndrome is a condition that can affect the heart, growth, and mental and physical development. It is generally recognized by a heart valve defect present at birth, short stature, droopy and wide set eyes, and low set ears. Features that are often present include low hairline in the neck region, striking blue or grey eyes, curly hair, and chest deformities. Affected children may have behavioral and learning problems. The incidence is between 1 in 1000 to 2500 children.
Often called a "hidden" condition, the children affected may have no obvious casual signs to the onlooker, but the problems may be many and complex. A clinical test is available, in some cases. As of 12-03-06, 3 genes have been identified [ PTPN11 - 50% ] [KRAS - 5%] and [SOS1 - 10%] . This is a genetic condition that can affect the heart, growth, blood clotting, mental and physical development. Affected individuals may have behavior problems, learning difficulties and many other anomalies. Noonan Syndrome is one of the most common of those conditions associated with congenital heart abnormality. It is the second most common genetic disorder after Down syndrome.
It is believed that 1 in 1,000 to 1 in 2,500 children worldwide are born with this condition.
Each day a child is born with the condition.
It's possible that people carry the gene yet are undiagnosed.
Once affected, their is a 50/50 chance of passing the gene on to one or more of their children.
It can also occur sporadically, presumably due to a new mutation.
"Remember, an alphabet does not make a child. Your child is your child, a diagnosis does not change who they are, just points you to places where you might learn more about your child."
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