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. This evidence concerns the gene SHOX and Leri-Weill dyschondrosteosis.