What is Noonan Syndrome?

Noonan Syndrome is one of a group of related genetic conditions known as the Rasopathies which are increasingly being looked at together for research purposes because of the way growth is targeted by the gene.

The Noonan Syndrome Association (NSA) encompasses many of these related conditions but Noonan Syndrome is the main focus as the widest spread of these complex genetic disorders, present in 1 in 2500 live births in the UK. Despite this and its major impact on lives, it remains a comparatively little known condition.

Noonan Syndrome can vary greatly in breadth and severity. It is common for those affected by Noonan Syndrome to have an array of physical and health problems, some of the more common including:

• Heart abnormalities in 80% of people affected

• Feeding problems from birth into childhood

• A distinctive Noonan “look” including heavy eyelids, tightened skin around the neck, and ears set low on the head.

• Speech & hearing—often undeveloped hearing can have an impact on speech

• Development, behaviour and intelligence – children with Noonan Syndrome often suffer from delayed intellectual development and behavioural problems.

• Growth is often impacted with many children and adults having short stature

• Epilepsy is evident with a significant number of Noonan’s children and adults

• Lymphoedema and other lymphatic system disorders

Being still comparatively little known, even amongst some of the medical profession, families affected by Noonan Syndrome have to face many challenges of parenting and caring without appropriate support and are often left feeling very isolated.