Cardiofaciocutaneous (CFC) syndromes are a group of sporadically occurring conditions characterized by developmental disorder, multiple congenital anomalies, and neurodevelopmental impairment (Roberts et al. 2006). They are classified among the RASopathies, a group of syndromes caused by germline mutations affecting the RAS-mitogen-activated protein kinase (MAPK) signal transduction pathway, which regulates essential cellular functions including proliferation, differentiation, survival, and migration (Scorrano et al. 2023). Four clinical subtypes of CFC syndromes have been delineated, each presenting with variable multisystem involvement, notably affecting the central nervous system, cardiovascular system, skin, and gastrointestinal tract. Phenotypic overlap exists between CFC syndromes and other RASopathies, such as neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML), Costello syndrome (CS), Legius syndrome (LS), central conducting lymphatic anomalies (CCLA), SYNGAP1 syndrome, and capillary malformation–arteriovenous malformation syndrome (CM-AVM). However, compared to these conditions, CFC syndromes are typically associated with more profound neurologic deficits and a more severe clinical phenotype (Zenker 2022).