Targeted PCR and Sanger sequencing of FGFR1, FGFR2, FGFR3, TWIST1, and TCF12 genes resulted in the highest diagnostic rate in our cohort of craniosynostosis patients strongly recommend analysing those genes first (isolated CS and syndromic CS without intellectual disability). The gene discussed is FGFR1; the disease is Cowden syndrome 1.