It is usually autosomal dominant, but in some cases the cause is not known. It occurs due to haploinsufficiency caused by mutations in the CBFA1 gene (also called Runx2), located on the short arm of chromosome 6, which encodes transcription factor required for osteoblast differentiation. It results in delayed ossification of midline structures of the body, particularly membranous bone. A new article reports that the CCD cause is thought to be due to a CBFA1 (core binding factor activity 1) gene defect on the short arm of chromosome 6p21 . CBFA1 is vital for differentiation of stem cells into osteoblasts, so any defect in this gene will cause defects in membranous and endochondral bone formation.
Cleidocranial dysostosis
Osteogenesis imperfecta
Acrofrontofacionasal dysostosis
Pycnodysostosis
Nager acrofacial dysostosis
Hajdu–Cheney syndrome
Ghosal hematodiaphyseal dysplasia
Mandibuloacral dysplasia