Monogenic forms of craniosynostosis are usually inherited in an autosomal dominant manner with highly penetrant mutations in FGFR1-3 and TWIST1 causing the most recognizable syndromes including Apert (MIM 101200), Crouzon (MIM 123500), Pfeiffer (MIM 101600), Antley-Bixler (MIM 207410), Muenke (MIM 602849), and Seathre-Chotzen (MIM 101400) syndromes. Here, TWIST1 is linked to craniosynostosis.