All of the following are seen in RASopathies except:-: (A) Hair abnormalities, (B) Craniofacial abnormalities, (C) Keratosis pilaris, (D) Desquamation of skin
Answer is D. 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.