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 (de novo mutations) in the RUNX2 gene. Dental problems are addressed with several procedures. Ear and sinus infections may be treated with antibiotics and use of ear tubes. In some cases surgery is needed for the cranial defect.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: 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/.
- Genetics Home Reference (GHR) contains information on Cleidocranial dysplasia. This website is maintained by the National Library of Medicine.
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- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Cleidocranial dysplasia. Click on the link to view a sample search on this topic.