Noonan Syndrome

Also known as: Noonan’s syndrome.

What is Noonan syndrome?

Noonan syndrome is a genetic disorder characterized by features such as heart defects, short stature, unique facial features and other physical abnormalities.

What causes Noonan syndrome?

Noonan syndrome is the result of a genetic mutation. In some cases, the disease is hereditary and passed down from parents to children. Other times the mutation occurs randomly.

What are the symptoms of Noonan syndrome?

Common symptoms of Noonan syndrome include unusual facial features such as wide-set eyes, a wide nose, low ears and a prominent forehead, among other features like short stature. Heart problems such as valve disorders or irregular heartbeat are also common.

What are Noonan syndrome care options?

There is no cure for Noonan syndrome. Some of the heart issues related to the disease can be repaired surgically, and growth issues can often be treated with hormone therapies. Other complications of the disorder can be treated symptomatically.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: March 20, 2019 04:08 PM