Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease caused by mutations in Runt-related transcription factor 2 (RUNX2) gene that induce haploinsufficiency in RUNX2. RUNX2 is a major transcription factor of osteoblasts development and bone remodelling [35]. This evidence concerns the gene RUNX2 and cleidocranial dysplasia 1.