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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cleidocranial dysplasia


Other Names for this Disease
  • CLCD
  • Cleidocranial dysostosis
  • Dysplasia cleidocranial
  • Marie-Sainton disease
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Cause


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What causes cleidocranial dysplasia?

Cleidocranial dysplasia is caused by mutations in the RUNX2 (CBFA1) gene.[1][2] This gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. When the gene is mutated, it decreases the total amount of functional RUNX2 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 near RUNX2.[1]

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.[1]

Last updated: 12/26/2012

References
  1. Cleidocranial dysplasia. Genetics Home Reference. January 2008; http://ghr.nlm.nih.gov/condition=cleidocranialdysplasia. Accessed 12/26/2012.
  2. Mendoza-Londono R, Lee B. Cleidocranial dysplasia. GeneReviews. June 25, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1513/. Accessed 12/26/2012.