Cleidocranial dysostosis

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Cleidocranial dysostosis or Cleidocranial dysplasia is a hereditary congenital abnormality of humans due to haploinsufficiency caused by mutations in the CBFA1 gene, on [1] the short arm of chromosome 6.

[edit] Presentation

Cleidocranial dysostosis is a general skeletal condition so named from the collarbone (cleido-) and cranium deformities which people with it often have. Common features are:

• Partly or completely missing collarbones.
• A soft spot or larger soft area in the top of the head where the fontanelle failed to close.
• Bones and joints are underdeveloped. People are shorter and their frames are smaller than their siblings who do not have the condition.
• The permanent teeth include supernumerary teeth. Unless these supernumeraries are reabsorbed before adolescence, they will crowd the adult teeth in what already may be an underdeveloped jaw. In that case, the supernumeraries will probably need to be removed to provide space for the adult teeth.
• Permanent teeth not erupting
• Bossing (bulging) of the forehead.

[edit] Notable cases

Although he has not said he has the condition, the comedian Emmett Furrow has no collarbones. [2]

[edit] External links

• http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cleidocranial+Dysplasia
• http://www.cafamily.org.uk/Direct/c37.html
• The National Craniofacial Association
• http://www.medterms.com/script/main/art.asp?articlekey=6549
• http://www.dental.mu.edu/oralpath/lesions/cleidocraniadys/cleidocraniadys.htm
• http://www.ncbi.nlm.nih.gov/books/bv.fcgi?indexed=google&rid=gene.chapter.ccd
• Medical Imaging on CCD

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