Other Names for this Disease
- Cleidocranial dysostosis
- Dysplasia cleidocranial
- Marie-Sainton disease
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Cleidocranial dysplasia is caused by mutations in the RUNX2 (CBFA1) gene. The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. Researchers believe that the RUNX2 protein acts as a "master switch," regulating a number of other genes involved in the development of cells that build bones (osteoblasts). Some mutations change one protein building block (amino acid) in the RUNX2 protein. Other mutations result in an abnormally short protein. This shortage of functional RUNX2 protein interferes with normal bone and cartilage development, resulting in the signs and symptoms of cleidocranial dysplasia. In rare cases, affected individuals may experience additional, unusual symptoms resulting from the loss of other genes located near RUNX2. In about one-third of individuals with cleidocranial dysplasia, no mutation in the RUNX2 gene has been found. The cause of the condition in these individuals is unknown. Read more about the RUNX2 gene.
Last updated: 4/7/2016
- Cleidocranial dysplasia. Genetics Home Reference. January 2008; http://ghr.nlm.nih.gov/condition=cleidocranialdysplasia.
- Mendoza-Londono R & Lee B. Cleidocranial dysplasia. GeneReviews. 2013; http://www.ncbi.nlm.nih.gov/books/NBK1513/.