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Cleidocranial dysplasia
Other Names for this Disease
- CLCD
- Cleidocranial dysostosis
- Dysplasia cleidocranial
- Marie-Sainton disease
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Overview
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]
References
- Cleidocranial dysplasia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=cleidocranialdysplasia. Accessed December 26, 2012.
Your Questions Answered
by the Genetic and Rare Diseases Information Center2 question(s) from the public on Cleidocranial dysplasia have been answered. See questions and answers. You can also submit a new question.
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General Information
- Genetics Home Reference (GHR) contains information on Cleidocranial dysplasia. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Cleidocranial dysplasia. Click on the link to go to OMIM and review these resources.