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Cleidocranial dysostosis



Cleidocranial dysostosis
Classification & external resources
ICD-10 Q74.0
ICD-9 755.59
OMIM 119600
DiseasesDB 30594
MedlinePlus 001589
MeSH D002973

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.

Additional recommended knowledge

Presentation

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.

Notable cases

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

 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Cleidocranial_dysostosis". A list of authors is available in Wikipedia.
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