CDC42 and macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome: Referring to the heterogeneity of clinical manifestations and the complexity of mutual phenotype-genotype interrelations in hitherto reported alterations in CDC42, it must be highlighted that establishing the definitive diagnosis of a CDC42- related syndrome, including TKS, is challenging for clinicians.