Noonan Syndrome

WHAT IS NOONAN SYNDROME?

Noonan Syndrome is a congenital genetic condition commonly associated with heart disease, short stature and distinctive facial features.  Although not widely reported it is estimated to occur once in every 1000-5000 births and is one of the most common genetic syndromes associated with congenital heart disease. It is sometimes referred to as one of the most complex genetic disorders. I

The syndrome is not always identified at an early age as the range and severity of the characteristics of the syndrome vary a great deal. At the moment there is no cure for Noonan Syndrome.  There is also no accurate prenatal testing available.

Noonan Syndrome was first identified in 1963 by Dr Jacqueline Noonan, a Paediatric Cardiologist in the United States.

HOW CAN YOU IDENTIFY NOONAN'S SYNDROME?

The facial characteristics of Noonan Syndrome can include:

• Ptosis - drooping eyelids,
• Eyes are large and downward slanting
• Hyperterlorism - where eyes are widely spaced,
• Noticeably blue or blue/green eyes,
• Ears are low set,
• The bridge to the nose is flat and the nose is small and upturned,
• A large head
• A wide forehead
• A triangular shaped head
• A short neck with extra skin folds (webbing)
• A round-shouldered look,
• Short stature (being present in up to 80% of people possessing the syndrome)
• A low hairline on the back of the neck, 

Children with Noonan Syndrome can also have vision problems such as myopia, short-sightedness. As a result of weak muscles in the mouth children can have speech and feeding problems.

WHAT ARE THE SYMPTOMS OF NOONAN SYNDROME?

There are many different types of symptoms associated with Noonan Syndrome.  Not everyone will have all the symptoms and they vary in seriousness. 80% of children with Noonan Syndrome have heart problems.  These can include:

• Pulmonary valve stenosis - where the valve taking blood from the heart to the lungs narrows.
• Hypertrophic cardiomyopathy - where there is a thickening of the heart muscles.
• Ventricular septal defect - where there is a hole in between the lower two chambers of the heart.
• Atrial septal defect - where there is a hole in between the upper two chambers of the heart.
• Pectus excavatum - where there is a 'sunken chest'.

Children with Noonan Syndrome also need to be observed after any dental work or surgery as there is a risk of bleeding due to a defect in the clotting of their blood as they can bruise more easily.

DEVELOPMENTAL ISSUES
In about 10% of cases of children with Noonan Syndrome will have Special Educational Needs.  Occasionally, a child will also have Autism (ASD).

Puberty and fertilifty is often delayed in both boys and girls with Noonan Syndrome. The average age for girls with Noonan Syndrome to start menstruating is about 15 years old. This can cause some emotional concerns but it is not thought to have any physical complications. With boys, surgery at a young age can avoid fertility problems in later life where either one or both of their testes fail to descend.

PROGNOSIS /TREATMENT
The cognitive functioning of a child with Noonan Syndrome is usually fine and if there is developmental delay it is usually mild. People with the syndrome can lead normal lives.

There is no single treatment for Noonan Syndrome.  The individual symtoms are treated separately. For example, people who possess short stature have been treated with growth hormone and this has been successful. Speech and Language Therapy can help children with speech and feeding problems.

Regular visits from an early age to an optometrist can correct problems a patient may have with their sight.

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Although the information we have provided here is meant to be helpful to you, Douglas Silas Solicitors cannot be held responsible for any damage or loss caused by any inaccuracy or reliance placed upon it. If you have any concerns about your child, you should seek professional educational or healthcare advice as soon as possible.