Mutations in SALL4 are associated with Duane-radial ray syndrome/Okihiro syndrome and SALL4-related Holt-Oram syndrome, both of which show phenotypes similar to those of thalidomide embryopathy (Al-Baradie et al., 2002; Kohlhase et al., 2002, 2003). Here, SALL4 is linked to Okihiro syndrome.