In four cases, patients’ phenotypes well matched to the syndromic features caused by haploinsufficiency of PAX6 (Aniridia, MIM:607108), TCF4 (Pitt-Hopkins syndrome, MIM:610954), FBN1 (skeletal/joint malformations, limb deformity; MIM:154700), and TWIST1 (Saethre-Chotzen syndrome, MIM:101400). The gene discussed is PAX6; the disease is Saethre-Chotzen syndrome.