| Cleidocranial dysostosis | |
|---|---|
| Classification and external resources | |
Hypoplasia of the clavicles and bell-shaped rib cage in the patient with CDD |
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| ICD-10 | Q74.0 |
| ICD-9 | 755.59 |
| OMIM | 119600 |
| DiseasesDB | 30594 |
| MedlinePlus | 001589 |
| MeSH | D002973 |
Cleidocranial dysostosis, also called Cleidocranial dysplasia, is a hereditary congenital disorder due to haploinsufficiency caused by mutations in the CBFA1 gene also called Runx2,[1] located on the short arm of chromosome 6.
It is usually autosomal dominant, but in some cases the cause is not known.[1]
Contents |
Cleidocranial dysostosis is a general skeletal condition[2] so named from the collarbone (cleido-) and cranium deformities which people with it often have. Common features are:
The comedian Emmett Furrow has no collarbones and uses the resulting extra shoulder mobility in comedy routines. [2] (2nd message); see also YouTube video
At the rescue of Jessica McClure, Ron Short, a muscular man (a roofing contractor) who was born without collarbones because of cleidocranial dysostosis and so could collapse his shoulders to work in cramped corners, arrived at the site and offered to go down the shaft; they accepted his offer, but did not use it.[3][4]
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