Noonan Syndrome | what you need to know in 20 minutes

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Noonan syndrome is one of the most common genetic conditions we see in paeds. It is most typically characterised by certain facial features, short stature, congenital heart defects and developmental delay. Noonan syndrome is caused by a mutation in a single gene, however there are quite a few possible genes that can be responsible. Vision and hearing loss, developmental delay, development of hypertrophic cardiomyopathy and the increased risk of leukaemia are important complications to monitor for patients with Noonans.