Noonan syndrome

Noonan syndrome is a genetic disorder that affects between one in 1,000 and one in 5,000 people. It is usually diagnosed at birth or in early childhood.

Noonan syndrome is named after Dr Jacqueline Noonan, a paediatric cardiologist (children’s heart specialist) in the US. She noticed that many children attending her clinic with narrowing of the pulmonary valves were also short and had similar facial features.

The symptoms of Noonan syndrome can vary from person to person but there are several distinctive symptoms and physical features that many people with the disorder have in common. These include:

• distinctive facial features,
• short stature, and
• heart defects.

The severity of Noonan syndrome can also vary enormously from one person to another.  Mild cases of the disorder often remain undiagnosed.

Glossary

Genetic disorder

A genetic disorder is a disorder caused by a fault in the genes. It is usually hereditary (runs in the family).

Heart

The heart is a muscular organ. Its function is to pump blood around the body.