Diagnosis

A diagnosis of Noonan syndrome is usually made after a doctor observes some key signs, but this can be difficult because some features are subtle and hard to identify. Sometimes, Noonan syndrome isn't diagnosed until adulthood, only after a person has a child who is more obviously affected by the condition. Molecular genetic testing can help confirm a diagnosis.

If there's evidence of heart problems, a doctor who specializes in heart conditions (cardiologist) can assess the type and severity.

Treatment

Although there's no way to repair the gene changes that cause Noonan syndrome, treatments can help minimize its effects. The earlier a diagnosis is made and treatment is started, the greater the benefits.

Treatment of the symptoms and complications that occur with Noonan syndrome depends on type and severity. Many of the health and physical issues associated with this syndrome are treated as they would be for anyone with a similar health problem. Taken together, though, the many problems of this disorder require a coordinated team approach.

Recommended approaches may include:

  • Heart treatment. Certain drugs may be effective in treating some kinds of heart problems. If there's a problem with the heart's valves, surgery may be necessary. The doctor also may recommend that heart function be evaluated periodically.
  • Treating low growth rate. Height should be measured three times a year until 3 years of age and then once every year until adulthood to make sure he or she is growing. To evaluate nutrition, the doctor will likely request blood tests. If your child's growth hormone levels are insufficient, growth hormone therapy may be a treatment option.
  • Addressing learning disabilities. For early childhood developmental delays, ask the doctor about infant stimulation programs. Physical and speech therapies may be helpful for addressing a variety of possible issues. In some cases special education or individualized teaching strategies may be appropriate.
  • Vision and hearing treatments. Eye exams are recommended at least every two years. Most eye issues can be treated with glasses alone. Surgery may be needed for some conditions, such as cataracts. Hearing screenings are recommended annually during childhood.
  • Treatment for bleeding and bruising. If there's a history of easy bruising or excessive bleeding, avoid aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help the blood to clot. Notify your doctor before any procedures.
  • Treatment for lymphatic problems. Lymphatic problems can occur in many ways and may not require treatment. If they do require treatment, your doctor can suggest appropriate measures.
  • Treatment for genital problems. If one or both testicles haven't moved into proper position within the first few months of life (undescended testicle), surgery may be needed.

Other evaluations and regular follow-up care may be recommended depending on specific issues, for example, regular dental care. Children, teens and adults should continue to have ongoing, periodic evaluations by their health care professional.

Coping and support

A number of support groups are available for people with Noonan syndrome and their families. Talk to your doctor about finding a support group in your area. Also ask about trustworthy resources on the internet that can direct you to local support groups and sources of information about Noonan syndrome.

Preparing for your appointment

If it's suspected that you or your child has Noonan syndrome, you're likely to start by seeing your primary care doctor or your child's pediatrician. However, depending on the signs and symptoms, you or your child may be referred to a specialist — for example, a cardiologist or a geneticist.

Here's some information to help you get ready for your appointment. If possible, bring a family member or friend with you. A trusted companion can help you remember information and provide emotional support.

What you can do

Before the appointment, make a list of:

  • Signs or symptoms that concern you
  • Any medications, including vitamins, herbs, over-the-counter medications or other supplements, and the doses
  • Questions to ask the doctor to make the most of your appointment

Some questions to ask might include:

  • Do the symptoms indicate Noonan syndrome?
  • What tests are needed to confirm the diagnosis?
  • Are there other possible causes?
  • What other problems might occur because of Noonan syndrome?
  • What's the best course of action for treating and managing these problems?
  • What are the alternatives to the primary approach that you're suggesting?
  • Do you recommend seeing a specialist?
  • Are there brochures or other printed material that I can have? What websites do you recommend?

Don't hesitate to ask other questions during the appointment.

What to expect from your doctor

Your doctor may ask questions such as:

  • When did you first notice that something may be wrong?
  • What signs and symptoms have you noticed?
  • Do you have any family history of Noonan syndrome?
  • Do you have any family members who've had congenital heart disease, bleeding problems or short stature?