After being diagnosed, the process of gathering and sorting through information can be overwhelming. Let us help you!
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?
This is your starting point for all the information you need to know! Below is a quick start guide to understanding NS as well as 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.
Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines
A comprehensive introduction to NS: this is a wonderful resource that helps parents learn about the secondary medical conditions that may arise and what treatments are available.
Clinical Management Guidelines (Noonan Syndrome)
This article is another great resource and includes NS specific Growth Charts for girls and boys.
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.