Information

After being diagnosed, the process of gathering and sorting through information can be overwhelming. Let us help you!

What Is NS?

WHAT IS NOONAN SYNDROME?

Noonan syndrome (NS) is a variably expressed, multisystem disorder with an estimated prevalence of 1 in 1,000 – 2,500 births. People with NS may experience bleeding issues, congenital heart defects including hypertrophic cardiomyopathy and/or pulmonary valve stenosis, lymphatic abnormalities, small stature/growth issues, feeding and gastrointestinal issues, failure to thrive, hypertelorism, learning disorders, autism, unexplained chronic pain, chiari malformation, hypotonia, ptosis, skeletal malformations, laryngomalacia, tracheomalacia, opthamology issues, orthopaedic issues, oncology issues and much, much more. Because of the variability in presentation and the need for multidisciplinary care, it is essential that the condition be identified and managed comprehensively./

HISTORY OF NOONAN SYNDROME

In 1962, Jacqueline Noonan, a pediatric cardiologist, identified 9 patients whose faces were remarkably similar and who, in addition, had short stature, significant chest deformities, and pulmonary stenosis. In 1968, Dr Noonan published a case series with these 9, plus an additional 10 patients. The eponym “Noonan Syndrome” was adopted in recognition of Dr Noonan, because she was the first to indicate that this condition occurred in both genders, was associated with normal chromosomes, included congenital heart defects, and could be familial.

What Do I Need to Know?

FIRST STEPS

This is your starting point for all the information you need to know! Below is a quick start guide to understanding NS as well a series of links to general information, journal articles, online support groups, guidelines on early intervention, feeding tubes, nursing care and more. Many of these are hosted on this site, but some may lead to external resources and medical journals.

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PLEASE NOTE

The Noonan Syndrome Foundation believes that it is important to note the following (all of which have been learned from experience):

  • Many individuals with Noonan Syndrome have bleeding issues and diathesis, so all people with NS should be tested for bleeding issues before having a surgery and/or procedure.
  • For people with NS and laryngomalacia or tracheomalacia, please be aware that many people with NS also have GERD (severe acid reflux - sometime silent). This is important because to fix these breathing issues a supraglottoplasty surgery may be necessary. This surgery can cause swelling in the airway. This swelling, on top of the swelling from the GERD, can cause life-threatening laryngo-spasm and/or cause an infants airway to close shut (even weeks after the surgery).
  • If you or someone you know is experiencing complications caused by NS, please feel free to contact us. We can connect you with other families who have children with similar symptoms and/or experiences.

Resources

BREATHING ISSUES

There have been some reported cases of breathing issues in babies and children with Noonan syndrome (NS). Some of these breathing issues may include laryngomalcia, tracheomalacia, subglottic stenosis and other issues with floppiness in the airway.

Cincinnati Children's Hospital has a world-renown Aerodigestive and Sleep Center that can help in these matters. They can even review your child's transcripts if you live far away, and help your doctors find solutions. For details, please visit Cincinatti Children's Hospital.

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USEFUL LINKS

Video Library

General Information

Resources

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Noonan Syndrome resources are changing all the time. Please let us know if you find new, helpful information that we should provide on this website.

You can email us and provide a web link if you have one!