TWIST1 and Saethre-Chotzen syndrome: Heterozygous loss‐of‐function point mutations within the TWIST1 coding region and monoallellic whole‐gene deletions have been reported in patients with SCS, consistent with haploinsufficiency of TWIST1 as the underlying causative mechanism (El Ghouzzi et al., 1997; Howard, et al., 1997; Johnson et al., 1998).