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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is cleidocranial dysplasia?

What causes cleidocranial dysplasia?

How is cleidocranial dysplasia inherited?

What is cleidocranial dysplasia?

Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Characteristic features of this condition include underdeveloped or absent collarbones (clavicles) and delayed closing of the spaces between the bones of the skull (fontanels). Individuals with cleidocranial dysplasia may also have decreased bone density (osteopenia), osteoporosis, dental abnormalities, hearing loss, and recurrent sinus and ear infections. Mutations in the RUNX2 gene cause most cases of cleidocranial dysplasia. This condition is inherited in an autosomal dominant pattern. In some cases, a person inherits cleidocranial dysplasia from a parent who also has the condition. Other cases result from new mutations in the RUNX2 gene.[1]
Last updated: 12/26/2012

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

How is cleidocranial dysplasia inherited?

Cleidocranial dysplasia is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.[1][2]
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.


Other Names for this Disease
  • CLCD
  • Cleidocranial dysostosis
  • Dysplasia cleidocranial
  • Marie-Sainton disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.