A doctor typically diagnoses Noonan syndrome after seeing some key signs. But this can be difficult because some features of the condition are not easily seen and are hard to find. Sometimes Noonan syndrome is not found until adulthood, after a person has a child who is more clearly affected by the condition. Genetic testing can confirm a diagnosis.

If there's evidence of heart problems, a cardiologist can find out the type and how serious it is.


Although there's no cure for Noonan syndrome, treatments can help decrease its effects. The earlier a diagnosis is made and treatment begins, the greater the benefits.

Treatment for Noonan syndrome depends on the symptoms and complications and how serious they are. Many of the health and physical issues are treated the same as they would be for anyone else. Given the many problems with this condition, a coordinated team approach is best.

Recommended approaches may include:

  • Heart treatment. Certain drugs may treat some kinds of heart problems. If there's a problem with the heart's valves, surgery may be needed. The doctor also may recommend that heart function be looked at from time to time.
  • Treating low growth rate. A health care professional should measure height three times a year until age 3 and then once a year until adulthood. This will make sure your child is growing. To find out if there is a problem with nutrition, blood tests may be ordered. If your child's growth hormone levels are not high enough, growth hormone therapy may be a treatment option.
  • Managing learning disabilities. For early childhood developmental delays, ask your doctor or health care professional about infant stimulation programs. Physical and speech therapies may be needed. In some cases, special education or teaching strategies tailored to your child's needs may be appropriate.
  • Vision and hearing treatments. Eye exams are recommended at least every two years. Glasses alone can treat most eye issues. Surgery may be needed for some conditions, such as cataracts. Hearing screenings are recommended yearly during childhood.
  • Treatment for bleeding and bruising. If there's a history of easy bruising or bleeding problems, do not use aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help blood clot. Let health care professionals know about issues with bleeding and bruising before any procedures.
  • Treatment for fluid buildup. Buildup of fluid in the body may or may not need treatment. Talk with your doctor or health care team about this. They may suggest certain steps to take.
  • Treatment for genital problems. If one or both testicles have not moved into the proper position within the first few months of life, your child may need surgery.

Other evaluations and regular follow-up care may be needed. This depends on specific issues. Anyone with Noonan syndrome should have medical follow-up from time to time on an ongoing basis.

Coping and support

Support groups are available for people with Noonan syndrome and their families. Talk to your health care team about finding a support group in your area. Also, ask about resources on the internet that you can trust and will direct you to local support groups and information about Noonan syndrome.

Preparing for your appointment

If you think you or your child may have Noonan syndrome, your first step may be to see your primary care doctor or your child's pediatrician. But depending on the symptoms, a specialist may be recommended — for example, a doctor who specializes in heart problems or genetics.

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:

  • Symptoms that concern you.
  • Any medicines, including vitamins, herbs, medicines available without a prescription 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 can confirm the diagnosis?
  • Are there other possible causes?
  • What other problems might occur because of Noonan syndrome?
  • How can these problems be treated and managed?
  • Are there any options to the main 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?

Do not 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 symptoms have you noticed?
  • Do you have any family history of Noonan syndrome?
  • Do you have any family members who've had heart disease since birth or bleeding problems?

Be ready to answer questions so you'll have time to talk about what's most important to you.

May 25, 2023
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