In 2014, a de novo variant in the zinc finger SWIM-type containing 6 gene (ZSWIM6) was commonly identified in four patients with acromelic frontonasal dysostosis (MIM #603671)1, a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preaxial polydactyly of the feet, and intellectual disability2. The gene discussed is ZSWIM6; the disease is acromelic frontonasal dysostosis.