What is Noonan Syndrome?

Noonan syndrome (NS) is an uncommon congenital (present from birth) developmental abnormality with widespread effects that occurs in both sexes and without any chromosomal defects. These people are short in stature, and have a wide neck, broad chest, abnormal heart valves, slanted eyes, low set ears, depressed bridge of the nose, broad tip of the nose and some mental retardation.

It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS. It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to Down syndrome. However, the range and severity of features can vary greatly in patients with NS. Therefore, the syndrome is not always identified at an early age.

Surgical correction of the heart problems and plastic surgery to cosmetic deformities are possible, but although there is no cure, sufferers have a relatively normal life expectancy.