Introduction

Noonan syndrome is a genetic disorder that can cause a wide range of distinctive features and health problems.

The conditionis present frombeforebirth, although milder cases may not be diagnosed until a child gets older.

The most commonfeatures of Noonan syndromeare:

  • unusualfacial features, such as abroad forehead,drooping eyelidsand a wider-than-usual distance between the eyes
  • short stature ( Short stature )
  • heart defects( congenital heart disease )

It's estimated that between 1 in 1,000 and 1 in 2,500 children are born with Noonan syndrome. It affects both sexes and all ethnic groups equally.

At least eight different faulty genes have been linked to the condition so far.

In some cases, the faulty gene associated with Noonan syndrome is inherited from one of the child's parents. The parent with the faulty gene may or may not have obvious features of the condition themselves. Only one parent needs to carry the fault to pass it on and each child they have has a 50% chance of being born with the condition.

In other cases, the disorder is caused by a new genetic fault that isn't inherited from either parent. In these cases, the chance of the parents having another child with Noonan syndrome is very small.

Readmore about the causes of Noonan syndrome .

Treatments forNoonan syndrome

There is currently no single treatment for Noonan syndrome, but it's often possible to successfully manage many aspects of the disorder.

For example, severe heart defects may need to be repaired with surgery, and growth hormone medication may be used to help prevent restricted growth.

Your child may initially need quite a lot of treatment and support to help manage the various problems they have. However,they'llusually need much less care as they get older, because the disorder tends to cause fewer problems in adulthood.

Outlook

Noonan syndrome can range from beingvery mild to severe and life-threatening.

In many cases, the problems associated with the conditioncan be treated successfully at a young age or become less prominent over time. Almost all children with Noonan syndrome reach adulthood and most are able to lead normal, independentlives.

However, problems such as heart defects can occasionally be severe and life-threatening.Some children may need emergency surgery to correct the problem as soon as possible, andmost people with Noonan syndrome will need to have their heartmonitored regularly throughout their life.

Information about your child

If your child has Noonan syndrome, your clinical team will pass information about him or her on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

Find out more about the register .

Content supplied by the NHS Website

Medically Reviewed by a doctor on 25 Nov 2016