The mutations in Twist family members, consisting of Twist1 and Twist2 (Dermo-1), are known to be the main cause of Saethre-Chotzen syndrome, which is characterized by craniosynostosis due to premature osteoblast differentiation in the skull and is often associated with facial dysmorphisms and limbs abnormalities [18,19]. Here, TWIST2 is linked to craniosynostosis.