This wide spectrum of disorders is termed PTEN hamartoma tumor syndrome (PHTS), which includes Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome (BRRS), PTEN-related Proteus-like syndrome, adult Lhermitte–Duclos disease (LDD), and autism spectrum disorders with macrocephaly [3]. The gene discussed is PTEN; the disease is Cowden disease.