Cleidocranialdysplasia. Amolecularandclinicalreview

Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder characterized by skeletal and dental abnormalities primarily, short stature, aplasia or hypoplasia of clavicles, open fontanelles and supernumerary teeth. Heterozygous mutations of the runt-related transcription factor 2 (RUNX2) gene have been found in approximately 60-70% of cases,leaving a large number of cases with no defined genetic cause which ledus to delve into molecular mechanisms underlying CCD and thus to detect potential target genes to be explored in these patients. In this review,we also highlight very broadly the phenotypic characteristics of previously reported patients with CCD.