Pointing to functional homology with the mouse Shox2 regulatory region, disruption of enhancers within the gene desert downstream of SHOX has been associated with Léri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) syndromes in a significant fraction of cases106. Here, SHOX2 is linked to Léri-Weill dyschondrosteosis.