Consistent with the phenotypes of SALL4 haploinsufficiency in mice, patients with Okihiro syndrome, an autosomal dominant disorder caused by mutations in SALL4, also present a range of symptoms including limb defects, eye anomalies (Duane syndrome), vertebral malformations, hearing loss, kidney defects, heart anomalies, and anal stenosis (Al-Baradie et al, 2002; Kohlhase et al, 2002). The gene discussed is SALL4; the disease is imperforate anus.