BRAF and cardiofaciocutaneous syndrome 1: The clinical phenotype of CFCS is also characterised by congenital cardiac defects (i.e., pulmonary valve stenosis and hypertrophic cardiomyopathy, mostly associated with BRAF variants) [11], short stature, developmental delay/intellectual disability, gastrointestinal dysfunction, ectodermal abnormalities and musculoskeletal problems (e.g., reduced bone mineral density, kyphoscoliosis, pectus anomalies and generalised muscle hypotrophy) [4,12].