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. Here, SHOX is linked to Langer mesomelic dysplasia.