Leri–Weill dyschondrosteosis (LWD) is caused by haploinsufficiency of SHOX in 60–70% of cases (intragenic deletions, duplications or mutations), and in 15–31% of patients without an intragenic mutation or deletion a putative enhancer sequence in the 3’-flanking region has been demonstrated (Benito-Sanz et al., 2005; Chen et al., 2009). Here, SHOX is linked to Leri-Weill dyschondrosteosis.