Supporting children with Noonan syndrome.
Noonan syndrome, a genetic condition occurring in around 1 in 2,000 live births, was first described in 1968 by Dr Jacqueline Noonan, an American cardiologist, who noticed that patients attending her clinic often had similar features. After Down syndrome, it is the second most common syndrome associated with congenital heart defects but remains largely unknown outside of specialist areas. Three genetic mutations have been isolated as causes, although in around 35 per cent of cases the cause is, as yet, unknown. There is a lot of research into the genetic causes being done and there may be new discoveries in the near future
BDF Newlife. info@bdfnewlife.co.uk
Sue
S
Lloyd
D002648:Child; D006801:Humans; D009154:Mutation; D009634:Noonan Syndrome / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*