ESCAP was the only CPG to recommend routine genetic testing, suggesting methyl-CpG-binding protein 2 (MECP2) mutation screening for all individuals, Fragile X testing for males (and for females where indicated), and phosphatase and tensin homolog (PTEN) analysis in cases of concurrent macrocephaly (Fuentes et al., 2021). This evidence concerns the gene PTEN and Macrocephaly.