Disordered or heterotopic bone growth is a common feature in diaphyseal dysplasia (as caused by mutations in TGFB1), osteopetrosis subtypes (as caused by mutations in CLCN7 and TNFSF11 which codes for RANKL) and ossification of the posterior longitudinal ligament of spine (previously associated with rs13279799 for which we report an association with otosclerosis). Here, CLCN7 is linked to Camurati-Engelmann disease.