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Noonan Syndrome
What is Noonan Syndrome?
The word syndrome refers to a condition in which certain clinical features
characteristically appear together. Noonan Syndrome takes its name from Dr.
Jacqueline Noonan who, a Paediatric Cardiologist in the United States, who noticed
that many children attending her clinic with narrowing of the pulmonary valves were
also short and had similar facial features. Noonan Syndrome is a rare usually inherited
condition. Occasionally it occurs without a family history. Between about 1 in 1000
and 1 in 5000 people are born with it. Genetic research is ongoing and could lead to a
test and treatment.
What features of Noonan syndrome affect the heart?
About 80% of people with Noonan syndrome are found to have a heart abnormality.
The most common are pulmonary valve stenosis (narrowing of the valve), a hole
between the upper chambers of the heart (atrial septal defect), a hole between the
lower chambers of the heart (ventricular septal defect) and a thickened heart muscle
(hypertrophic cardiomyopathy).
What other features are there?
Like many other conditions, Noonan Syndrome has certain facial characteristics.
These vary greatly from child to child and it is unlikely any child will have all the
features. They may include restricted growth, heavy eyelids, shortened neck with extra
folds of skin, and low-set ears. In boys, many have undescended testicles.
Developmental milestones may be delayed. However, most children with Noonan
Syndrome do not look much different from the general population
How is it diagnosed?
There is currently no diagnostic test for Noonan syndrome. Heart abnormalities are
usually discovered when the doctor hears a heart murmur when listening to your chest
with a stethoscope. Further tests are then carried out to find the cause of the murmur.
Genetic counselling can offer support and guidance on the hereditary nature of the
disorder. If Noonan Syndrome is diagnosed then genetic counselling occurs for the
family.
What can be done to treat it?
Hormone treatment is sometimes given to children with restricted growth, although
studies into this are ongoing. The cardiologist will decide if heart abnormalities need to
be treated. Major structural defects such as hole in the heart or severe pulmonary
stenosis might need surgery, but many people do not require either medical or surgical
treatment.
Noonan Syndrome
Further Information
The Birth Defects Foundation Newlife provides help, support and information to
anyone affected by Noonan Syndrome. They have produced a detailed booklet on
Noonan Syndrome which has been prepared by the Noonan Syndrome Research Unit
at St. Georges Hospital Medical School, London. The Noonan Syndrome unit at St
George’s is now recognised as the leading international centre for Noonan Syndrome
research, having been established in 1987. The results of research have been
published and presented internationally and have contributed significantly to the basis
of contemporary understanding and treatment.
Birth Defects Foundation“Newlife”
BDF Centre
Hemlock Business Park
Hemlock Way
Cannock, Staffordshire
WS11 7GF
Birth Defects Foundation Newlife Nurse Service Helpline: 08700 70 70 20
Mon to Fri 9.30am-5pm (Answerphone outside these hours)
Tel: 01543 468888
Fax: 01543 468999
Email: [email protected]
Website: www.birthdefects.co.uk
July 2005