Cleidocranial dysplasia is a spectrum of disorders caused by heterozygous mutations in the RUNX2 gene (chr. 6p21.1), a transcription factor involved in osteoblast differentiation and skeletal morphogenesis.

Classic cleidocranial dysplasia is characterized by delayed closure of the cranial sutures, clavicular hypoplasia or aplasia resulting in narrow sloping shoulders, dental abnormalities including supernumerary teeth and delayed eruption of permanent teeth, and normal intelligence. Some affected individuals exhibit isolated dental anomalies without skeletal manifestations.

In this talk, I will discus the genetics aspect and inheritance pattern of cleidocranial dysplasia and the main clinical manifestations.