The term RASopathies refers to a clinically and genetically heterogeneous group of diseases caused by germline mutations in genes coding for proteins of the RAS/mitogen-activated protein kinase signaling pathway. The clinical symptoms affect several organ systems (integument, cardiovascular system, skeleton, muscles, gastrointestinal tract, CNS, eyes). Some syndromes have characteristic craniofacial features and some have an increased risk of tumors. Clinically, there is a large overlap between the individual clinical pictures, which can make a reliable clinical diagnosis and targeted diagnostics more difficult. In addition, since several of these diseases can be caused by pathogenic changes in various genes of the RAS/MAPK signaling pathway, stepwise diagnostics using next generation sequencing (NGS) may be useful for clarification.
Syndromes include: Cardiofaciocutaneous syndrome, Costello syndrome, Legius syndrome, LEOPARD syndrome, Neurofibromatosis type1 and Noonan syndrome.
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