Noonan syndrome (NS) may be a form of neurofibromatosis type 1 (NF1) since both belong to a group of clinically related disorders that share a common pathogenesis, constitutive dysregulation of the RAS-MAPK pathway with recent studies confirming a novel missense mutation in the NF1 gene in exon 24, p.L1390F, which affects the GAP-domain involved in the etiology of NFNS [16]. The gene discussed is NF1; the disease is neurofibromatosis-Noonan syndrome.