What is Noonan Syndrome?
Noonan Syndrome is known as “the most complex genetic disorder”. It is estimated to occur in some 1 in 1000 to 1 in 5000 births. Roughly speaking, one child is born with the condition in the UK every 2 days.
Noonan Syndrome was first named in 1963 by Dr Jacqueline Noonan, a Paediatric Cardiologist in the United States.
It is a genetic condition, affecting males and females equally. Although it is primarily an inherited condition, in about 50% of cases it can occur in a family from a genetic mutation.
Noonan Syndrome and BDF Newlife
For several years we have been funding the Noonan Syndrome Research Unit at St George’s Hospital Medical School in London.
The Unit was established in 1987 and is recognised as the leading international centre for NS research. Results of its research have been published and presented internationally and have contributed significantly to the basis of contemporary understanding and treatment. Indeed, the Unit, in collaboration with teams in Holland and the USA, has identified the gene responsible for the condition, which means that a diagnostic test can now be developed.
What are the features of Noonan Syndrome
Features vary in the degree of severity between individuals and families. Not everyone with Noonan Syndrome will exhibit all features. Indeed, often once a child is diagnosed, a parent or even a grandparent is then diagnosed.
Noonan Syndrome can cause congenital heart disease, short stature, genital abnormalities and in some cases, learning difficulties. More detail
How is Noonan Syndrome diagnosed?
Until recently there has been no diagnostic test for Noonan Syndrome, and diagnosis has been made when a patient has a number of the typical features.
However, recent collaboration by scientists in the UK (funded by BDF Newlife), Holland and the USA has identified the gene responsible. This means that a diagnostic test can now be developed.
Further information
BDF Newlife’s booklet, "Noonan Syndrome" is available free of charge, by download or by post from BDF Newlife.
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