In Liebenberg syndrome, a highly conserved non-coding enhancer element, hs1473, which is normally separated from PITX1 by a TDB, was relocated into the vicinity of PITX1. Element hs1473 was shown to have forelimb-specific activity in mouse embryos, and transgenic hs1473-Pitx1 mice showed features characteristic of Pitx1 misexpression at embryonic day 15.5, as well as phenotypic features of forelimb-to-hindlimb transformation [20]. The gene discussed is PITX1; the disease is Brachydactyly - elbow wrist dysplasia.