Gourt > Health > Conditions and Diseases > Rare Disorders > Cleidocranial Dysplasia
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 person can make both shoulders touch each other in front of the chest: see image.
- 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.
There has been at least one case (the rescue of Jessica McClure) when the resulting ability to collapse the shoulders was useful to squeeze through narrow holes.
More on [ Cleidocranial dysostosis ]
Genetic Disorders
Musculoskeletal Disorders
A family with cleidocranial dysplasia and crossed ectopic kidney in one child. - http://bit.ly/4e6aIg
ALLeukemiaChild (ALL Leukemia CHild) Wed, 21 Oct 2009 08:08:55 -0000
A family with cleidocranial dysplasia and crossed ectopic kidney in one child. - http://bit.ly/4e6aIg
A Natural History of Cleidocranial Dysplasia - An article from Baylor College of Medicine.
MedicineNet.com: Cleidocranial Dysplasia - Basic information.
Meta Description: [ Online Medical Dictionary and glossary with medical definitions ]
National Library of Medicine: Cleidocranial Dysplasia (CCD, CLCD) - A list of synonyms, summary and major features.
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