General

There are many common congenital eye abnormalities in Noonan Syndrome. These abnormalities may affect the external structures or aesthetics of the eye and some may affect the internal function or vision of the person affected. In this Blog Post we look at the most common eye and visual deficits associated with Noonan Syndrome and how…

Noonan Syndrome (NS) is a chromosomal genetic disorder and as such can cause many varied and wide ranging pathologies. One of the most worrying health implications of a NS diagnosis is an increased chance of developing cancer; particularly in childhood. There are several blood-based cancers that occur in NS at a higher rate than the…

Growth Hormone Therapy and Noonan Syndrome Short stature affects 83% of children with Noonan Syndrome (NS). The use of Growth Hormone (GH) to treat short stature in NS is a controversial topic due to its conflicting results, cost, duration of treatment and safety concerns. In this Blog Post we examine the reasons why short stature…

Few people realise that Noonan syndrome (NS) is the second most common syndromic cause of congenital heart disease, exceeded in prevalence only by Trisomy 21 (Down Syndrome). Several cardiovascular issues can occur in Noonan syndrome. The most common by far is pulmonary stenosis (often with dysplastic valves; 50–60%), followed by hypertrophic cardiomyopathy (20%), and an…

Parenting is never easy but the unique longitudinal demands of having a child with a rare disease places large emotional, physical, financial and social demands on parents and caregivers. What can exacerbate these demands is a lack of adequate emotional and practical supports, resources, education and understanding from friends and loved ones. A Baby is…

A REVOLUTION IN DIAGNOSIS Noonan Syndrome (NS) like most rare diseases can be difficult to diagnose. Sadly at present 50% of individuals with NS are misdiagnosed or undiagnosed. Thankfully an exciting new technology may change these statistics! Researchers at the National Human Genome Research Institute (NHGRI) have successfully used facial recognition software to diagnose rare…

CRISPR-Cas9: A CURE FOR NOONAN SYNDROME? ‘Your child has an incurable disease’ is a statement that every parent fears but unfortunately for parents of children with Noonan Syndrome (NS), it is one that they have heard from medical professionals. Such a statement understandably triggers emotions of despair, anxiety, depression and possibly most of all –…

Hello and Welcome to our official NSAA Launch! We couldn’t have picked a better day to launch our Association than February 28th – World Rare Disease Day. NS is a rare genetic disease but with an estimated incidence of as many as 1:1000 it is possibly the most ‘common’ rare disease in your community! The Noonan…

Welcome to our new website. Watch this space for new and exciting things to come!