Noonan syndrome is a genetic condition that can cause a range of symptoms. In the U.S, Noonan syndrome can occur in up to 1 in 1,000 to 2,500 people. While there is no cure, your doctor can recommend guidance to keep your child as healthy as possible, so they can lead a full, active life.

Anyone can be born with Noonan syndrome. A person with Noonan syndrome has a 50% chance of passing the condition to their child. And ~50% of people with Noonan syndrome have a parent with the condition.

Noonan syndrome occurs due to mutations in certain genes; it can be inherited or spontaneous mutation.

Symptoms start to appear when the fetus is developed in the uterus or appear in children before the age of 11, and it can vary for mild to life-threatening.

Some facial features include tall forehead, deep groove in the middle of the upper lip, droop eyelid, and a flat nose. Other physical symptoms include bulging toes and finger pads, abnormally shaped or discoloured nails, short neck with low hairline or extra folds of skin (webbing), short stature, and sunken or raised sternum. Many children also have heart disorders, breathing issues, lymphedema, and developmental delays.

Genetic testing can find an abnormality in ~80% of people with Noonan syndrome. For the remainder, researchers do not know the cause.

Additional tests include physical tests, blood tests, chest x-rays, CT scan, echocardiogram, electrocardiogram, and ultrasound can be done to confirm the diagnosis.