(medicine) A congenital defect in which there is deficient formation of bone in the skull and clavicle.
Cleidocranial dysostosis
| Sci-Tech Dictionary: cleidocranial dysostosis |
| 5min Related Video: Cleidocranial dysostosis |
| Dental Dictionary: cleidocranial dysostosis |
n
(Sainton’s disease), a familial disease or congenital disorder characterized by failure to form, or retarded formation of, the clavicles; delayed closure of the sutures and fontanels; and delayed eruption of teeth, with formation of supernumerary teeth. Cleidocranial dysostosis is characterized by underdevelopment of the maxillae, agenesis or aplasia of the clavicle, abnormalities in other skeletal bones and muscles, and irregularities of the dentition. The syndrome may be mutational or transmitted on an autosomal dominant basis.
| Medical Dictionary: cleidocranial dysostosis |
or clidocranial dysostosis
n.
n.
A congenital complex that may be hereditary and is characterized by absent or rudimentary development of the clavicles, an enlarged incompletely ossified skull with frontal protuberances, and poor tooth formation. Also called cleidocranial dysplasia, craniocleidodysostosis.
| Wikipedia: Cleidocranial dysostosis |
 |
This article needs additional citations for verification. Please help improve this article by adding reliable references. Unsourced material may be challenged and removed. (June 2008) |
| Cleidocranial dysostosis | |
| Classification and external resources | |
 |
|
|---|---|
| Hypoplasia of the clavicles and bell-shaped rib cage in the patient with CDD | |
| 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,[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 |
Presentation
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:
- Partly or completely missing collarbones. If the collarbones are completely missing or reduced to small vestiges, this allows hypermobility of the shoulders including ability to touch the shoulders together in front of the chest.
- 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.
- Hypertelorism
Notable cases
The comedian Emmett Furrow has no collarbones and uses the resulting extra shoulder mobility in comedy routines. [2] (2nd message); see also image; YouTube video
References
- ^ Tanaka JL, Ono E, Filho EM, Castilho JC, Moraes LC, Moraes ME (September 2006). "Cleidocranial dysplasia: importance of radiographic images in diagnosis of the condition". J Oral Sci 48 (3): 161–6. PMID 17023750. http://joi.jlc.jst.go.jp/JST.JSTAGE/josnusd/48.161?from=PubMed.
- ^ Garg RK, Agrawal P (2008). "Clinical spectrum of cleidocranial dysplasia: a case report". Cases J 1 (1): 377. doi:. PMID 19063717. PMC: 2614945. http://www.casesjournal.com/content/1/1/377.
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
- Radiology of CCDImages from MedPix
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||
 |
This disease article is a stub. You can help Wikipedia by expanding it. |
This entry is from Wikipedia, the leading user-contributed encyclopedia. It may not have been reviewed by professional editors (see full disclaimer)
Learn More
 | craniofacial dysostosis |
| dwarfism |
| diseases, dental, hereditary |
Help us answer these
Post a question - any question - to the WikiAnswers community:
Copyrights:
 |
 | Sci-Tech Dictionary. McGraw-Hill Dictionary of Scientific and Technical Terms. Copyright © 2003, 1994, 1989, 1984, 1978, 1976, 1974 by McGraw-Hill Companies, Inc. All rights reserved. Read more |
 |
| Dental Dictionary. Mosby's Dental Dictionary. Copyright © 2004 by Elsevier, Inc. All rights reserved. Read more |
 |
| Medical Dictionary. The American Heritage® Stedman's Medical Dictionary Copyright © 2002, 2001, 1995 by Houghton Mifflin Company. Read more |
 |
| Wikipedia. This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Cleidocranial dysostosis". Read more |
ADVERTISEMENT
|
