What is Noonan Syndrome (NS) and How is it Diagnosed?

CME WebsitesChild Development, Special Needs Diagnoses

Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both boys and girls.

How is Noonan Syndrome Diagnosed?

The diagnosis of Noonan Syndrome is based on clinical features. In other words, it is made when a physician feels that a patient has enough of the features to warrant the label indicating association.

The most common symptom is a heart defect. Typically, two-thirds of children diagnosed with Noonan Syndrome have a heart defect.

However, since the severity of clinical features varies greatly in children with Noonan Syndrome, its not always identified at an early age.

Cause of Noonan’s Syndrome

Noonan Syndrome is a genetic disorder.

Noonan Syndrome Symptoms

The facial features of those with Noonan Syndrome include:

  • Wide spaced eyes
  • Down-slanting eye slits
  • Thick hooded eyelids
  • Low-set backwards rotated ears
  • Thick ear
  • Deeply grooved area between the nose and upper lip
  • High wide peak of the upper lips reddish border
  • High-arched palate of the mouth
  • Nape of the neck with extra skin and low hairline
  • Very blue or blue-green eyes
  • Diamond-shaped eyebrows
  • Curly hair

Additional Traits of Noonan Syndrome

  • Failure to thrive as an infant
  • Developmental delay
  • Learning disability
  • Language delay
  • Mild hearing loss

Noonan Syndrome Treatment

Treatment for Noonan Syndrome focuses on its symptoms. Close monitoring of your child’s heart condition is important, because heart problems are the most serious aspect of this condition.

Some heart problems may be able to be corrected with surgery. Since the symptoms can vary widely, different specialists might be needed to provide medical care for different individuals.

Where Can I Get More Information?

The Noonan Syndrome Foundation
1840 W Whittier Boulevard #195
La Habra, CA 90631, USA
Website: www.teamnoonan.org