Rasopathy
Clinic description
The Rasopathies area group of disorders that are all caused by changes in genes in a cellular pathway described as the RAS/MAPK pathway. Overall they are common disorders that are highly variable, but can have effects on learning and behaviour, growth and development. Involvement of the skin and heart is common, and for some of the conditions, there is an increased risk of certain cancers. The commoner conditions are Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan-like syndrome with loose anagen hair, Cardio-facio-cutaneous syndrome (CFC) and Costello syndrome.
Clinical service description
The Rasopathy clinic in Manchester is led by Professor Bronwyn Kerr, supported by Dr Emma Burkitt-Wright, who has completed a PhD on CFC syndrome. Both are on the Medical Advisory Board for the Noonan Syndrome Association, and the Professional Advisory Committee of the Costello Syndrome Family Network.
The Rasopathy clinic is able to confirm clinical or molecular diagnoses for any patient with a suspected or proven Rasopathy. When possible, local clinical management is supported, through the provision of growth charts and guidelines, with emphasis on an individual and family’s particular needs. When required, consultation with other specialties can be organised. This includes expert behavioural and psychological assessment in childhood.
Referral information
Referrals should be made to Professor Bronwyn Kerr or Dr Emma Burkitt-Wright.
For further information about these clinics, please contact Mrs Ginny Dermody, secretary to Dr Kerr on 0161 701 2335.