The syndrome is a collection of symptoms or characteristics that vary greatly from individual to individual. This means that each person has its own unique combination of symptoms, where some have more and others fewer.

Some of the most common symptoms include congenital heart defect, short stature, hearing impairment, visual impairment, developmental delay, pigmentation of the skin and delayed motor development. Many of the symptoms diminish or disappear the older the child becomes.

A positive attitude and high degree of persistence are referred to as common personality types among many people with Noonan syndrome. But of course, children with Noonan syndrome have different personality types and different individual interests just like everyone else.

A diagnosis of Noonan syndrome usually relates to visible physical symptoms, where heart defect and short stature are the strongest indicators. However, in recent years, several different genetic patterns that cause Noonan syndrome have been identified, and in many cases a genetic diagnosis can be made.

Noonan syndrome is named after Jacqueline Noonan, a pediatric cardiologist who described the syndrome in the 1960’s.

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