All of the following are seen in RASopathies except:-
RAS opathies:- Group of medical genetic syndrome caused by germ line mutation in genes that encode components or regulator of RAS or MAP kinase pathway: Clinical features:- Distinct Facial features Developmental delays Cardiac defect Growth delays Neurological issues GI difficulties Examples Noonan Syndrome Neurofibromatosis Type I Costello syndrome Cardia- facio cutaneous syndrome. Legius syndrome =Skin desquamation is not seen in RAS Opathies.
Hair abnormalities
Craniofacial abnormalities
Keratosis pilaris
Desquamation of skin
Single Gene Disorders