Heterozygous SHOX variants leading to haploinsufficiency result in non-syndromic SHOX-deficient short stature (SS, MIM 300582) at the mild end and Leri–Weill dyschondrosteosis (LWD, MIM 127300) at the severe end of the clinical spectrum [3,6]. This evidence concerns the gene SHOX and Leri-Weill dyschondrosteosis.