This deletion encompasses the disease locus associated with “Leri-Weill Dyschondrosteosis-Short Stature Homeobox gene defect syndrome.” Patients with short stature homeobox gene defects manifest a wide array of clinical features, including disproportionate short stature, restricted forward or backward rotation of the forearms, Madelung deformity, and radial curvature. The gene discussed is LBX1; the disease is Leri-Weill dyschondrosteosis.