Other Names for this Disease
- Cleidocranial dysostosis
- Dysplasia cleidocranial
- Marie-Sainton disease
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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.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),
Last updated: 12/26/2012
- Cleidocranial dysplasia. Genetics Home Reference. January 2008; http://ghr.nlm.nih.gov/condition=cleidocranialdysplasia. Accessed 12/26/2012.
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