Current opinions on Noonan syndrome and RASopathies

The potential for pathway targeted therapy, with increasing reported use of trametinib for severe cardiac and lymphatic manifestations of RASopathies, exemplifies the importance of recognizing RASopathy diagnoses and of clearly defining natural history and treatment endpoints. Further refinement of genotype-phenotype correlations and the phenotypic spectrum, particularly the delineation of neurologic manifestations clinically and radiographically, are likely to be areas of significant knowledge growth in upcoming years.