Bone symptoms in patients with GGCX mutations show an important clinical overlap with other genetic syndromes, such as X-linked chondrodysplasia punctata (an autosomal recessive disorder caused by mutations in the ARSE gene (arylsulphatase E; OMIM*123700), encoding ARSE), Keutel syndrome, due to MGP gene mutations; and the fetal warfarin syndrome [64]. Here, GGCX is linked to X-linked chondrodysplasia punctata.