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). Here, MECP2 is linked to Macrocephaly.