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Noonan syndrome
Background
Noonan syndrome was initially described by Professor Jackie Noonan who realised that many children with pulmonary stenosis (see entry Heart Defects) also had similar physical features. Noonan syndrome was incorrectly referred to as ‘male Turner syndrome’ as it also involves short stature and a webbed neck, but the term is wrong as Noonan syndrome affects both males and females and is an inherited disorder with normal sex chromosomes. We now recognise it occurs due to a defect in one of the genes of the RAS-MAPK pathway and as such overlaps with conditions such as LEOPARD syndrome, cardiofaciocutaneous syndrome (CFC), Costello syndrome and neurofibromatosis.
