The regulation of the growth plate by the SHOX gene exhibits a gene-dosage effect, and patients with SHOX defects show significant phenotypic heterogeneity.[8–10] Pathogenic mutations in the gene can cause Léri-Weill dyschondrosteosis as a pseudoautosomal dominant disorder and Langer mesomelic dysplasia as a pseudoautosomal recessive disorder. The gene discussed is SHOX; the disease is Leri-Weill dyschondrosteosis.