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. It has one or more of these features:-

• The collarbones are partly or completely missing. If they are completely missing, the shoulders can touch each other in front of the chest.
• The fontanelles of the skull are late in closing, or never close.
• Extra teeth.
• Permanent teeth not erupting.
• Bossing (= bulging) of the forehead.

The comedian Emmett Furrow has no collarbones. [1]

[edit] External links

• Cleidocranial dysplasia - Geneva Foundation for Medical Education and Research
• 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.nlm.nih.gov/medlineplus/ency/article/001589.htm
• http://www.dental.mu.edu/oralpath/lesions/cleidocraniadys/cleidocraniadys.htm