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Diagnosis & Treatment

Noonan Syndrome

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How is Noonan Syndrome Diagnosed?

Diagnosis

In some cases, symptoms of Noonan syndrome are easy to see at the baby’s birth and the condition can be diagnosed immediately. For other people, symptoms are so subtle that they only become aware of the disorder when one of their children is affected.

Noonan syndrome diagnosis at any age can be based on:

  • Physical examination. In examining a newborn, or even at other stages of life, an experienced doctor may diagnose typical features of Noonan syndrome. The doctor will also take a complete medical history and a detailed family medical history.
  • Heart abnormalities. Since congenital heart problems are so common with Noonan syndrome, babies born with pulmonary valve stenosis and other malformations are usually tested further. These tests can help diagnose Noonan syndrome:
    • Electrocardiogram (ECG or EKG) records the electrical activity of the heart
    • Echocardiogram, an ultrasound scan that shows the heart beating
  • Genetic testing. A DNA sample can be tested to determine whether a person has one of the mutations most commonly found in Noonan syndrome and confirm a diagnosis. However, it is possible to have the condition without having a detectable mutation.

How is Noonan Syndrome Treated?

Treatment

There is no treatment to correct the underlying genetic changes that cause Noonan syndrome. Rather the symptoms and complications are treated much as they would be in others with similar health issues. Since Noonan syndrome can affect so many areas of the body, patients may rely on a team of specialists for care.

Aspects of Noonan syndrome that typically receive treatment include:

  • Slowed growth and short stature. An endocrinologist will monitor a child’s growth rate and may recommend growth hormone therapy
  • Heart problems. Surgery may be needed soon after birth or later to repair congenital heart problems. In other cases, medications are recommended. Heart monitoring by a cardiologist is a lifelong part of health care for many people with Noonan syndrome.
  • Blood disorders. A hematologist may be a healthcare team member and may recommend medication to help with clotting
  • Vision problems. Regular eye exams and glasses can address the vision issues affecting most people with Noonan syndrome
  • Genital problems. Males may need surgery if one or both testicles have not moved into position during the first year of life
  • Developmental delays. Specialists including occupational, physical, and speech therapists work with children with Noonan syndrome. Other support for issues that affect learning can help school-age children.
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Trust NewYork-Presbyterian for Noonan Syndrome Care

Knowing the symptoms of Noonan syndrome is important for an accurate diagnosis and early treatment. Pediatricians at NewYork-Presbyterian have experience in recognizing the varied and sometimes subtle symptoms of Noonan syndrome. Schedule an appointment for a consultation for expert pediatric care and referral to our pediatric cardiology and endocrinology specialists.