Noonan Syndrome in Children

What are some Noonan syndrome symptoms?

There can be many Noonan syndrome signs and symptoms because the condition affects many different types of tissue within the body. The most noticeable signs are a short stature, a heart murmur and differences in facial features. Other Noonan syndrome signs and symptoms include:

• Congenital heart defects such as pulmonary valve stenosis, hypertrophic cardiomyopathy
• Short or broad neck
• Speech delay and learning differences
• Undescended testicles in males
• Pectus carinatum (a chest that sticks out) or pectus excavatum (a chest that caves in at the center)
• Abnormal bleeding or bruising

A more serious Noonan syndrome symptom is an abnormal collection of lymphatic fluid called chylothorax, which can appear as puffiness throughout the body, or a fluid collection around the lungs or in the abdomen. This can affect breathing and may require immediate medical attention or surgery.

How do doctors diagnose Noonan syndrome?

If your child's doctor suspects Noonan syndrome might be causing some of your child's medical conditions, they will likely order more tests to be sure. Genetic testing can tell the doctor if your child has a gene change or variant that causes Noonan syndrome.

Your child's cardiologist will perform an echocardiogram (ECHO) and an electrocardiogram (ECG) to examine the structure and function of the heart. In cases that we need to evaluate heart structure and function in more detail, we perform a cardiac MRI.

Noonan syndrome treatment at Children's Hospital Colorado

While there is no cure for Noonan syndrome, it is possible to treat nearly all its related symptoms. With modern treatments, the life expectancy for people with Noonan syndrome can reach the same as those without Noonan syndrome and most children with the condition live healthy lives.

Noonan syndrome treatments for all of your child's symptoms

At Children's Colorado, our specialty doctors will help your child manage their symptoms no matter what part of the body they affect. Our hematologists can treat any bleeding complications your child may develop as a result of Noonan syndrome. Our pediatric surgeons are trained specifically to treat children, and this includes children with skeletal complications like the chest wall abnormalities that often accompany Noonan’s syndrome. Our endocrinologists can assist with hormone abnormalities like hypothyroidism (low thyroid hormone production) or provide growth hormone treatment to improve short stature. Our audiologists and ENTs can monitor for hearing loss and treat conditions affecting the ear, nose and throat like frequent ear infections and sleep apnea.

At our Heart Institute, we can monitor and treat any of the cardiac complications that occur with Noonan syndrome. Our cardiologists use medication to slow the growth of enlarged aortas, as well as potentially slow the growth of heart muscle in cardiomyopathy. In some cases, our cardiothoracic surgeons may recommend surgery to fix congenital heart disease or valve abnormalities.

Noonan Syndrome Clinic 

We hold a clinic every month to address the needs of children with Noonan syndrome. Because Noonan syndrome affects so many different parts of the body, this clinic can be very helpful. The Clinic brings specialists from many different departments together in one place so your child can see them all at once. This helps avoid having to make multiple appointments. All working together in one location also allows our specialists to discuss how treatment for one symptom may affect treatment for other symptoms, ultimately helping us provide more effective and successful treatment as a whole.

To learn more about the clinic or to request an appointment, call our clinical specialty coordinator at 720-777-6498.

The RASopathies Network strives to grow a community of practice around RASopathies research by raising awareness, fundraising and connecting and fostering collaboration among those affected and those researching and treating RASopathies.

The American Heart Association fights heart disease and stroke through funding research, sharing knowledge and advocating for those battling heart disease and their families.