SHOX deficiency (SHOX-D) causes short stature with a highly variable phenotype, ranging from an extreme dwarfism, with mesomelia and limb deformity as seen in Langer syndrome (caused by two defective or absent SHOX alleles) to a disproportionate short stature with mesomelia known as Léri–Weill dyschondrosteosis (caused by defective or loss of a single SHOX allele), to apparently idiopathic short stature (ISS) with no other obvious clinical signs [4]. The gene discussed is SHOX; the disease is hyperinsulinemic hypoglycemia, familial, 4.