Mutations and deletions in SHOX have been reported to cause short stature in patients with idiopathic short stature (ISS, OMIM #300582), Turner syndrome [16,17], dyschondrosteosis (Leri-Weill syndrome, LWD, OMIM #127300) [18] and its more severe form Langer mesomelic dysplasia (OMIM #249700) [19]. Here, SHOX is linked to Leri-Weill dyschondrosteosis.