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Cleidocranial dysostosis

 
Sci-Tech Dictionary: cleidocranial dysostosis
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(¦klī·dō¦krān·ē·əl ¦dis·ä′stō·səs)

(medicine) A congenital defect in which there is deficient formation of bone in the skull and clavicle.

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Dental Dictionary: cleidocranial dysostosis
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(klī′dōkrā′nē-əl)
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
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or clidocranial dysostosis
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
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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 [1]

Cleidocranial dysostosis, also called Cleidocranial dysplasia, is a hereditary congenital disorder due to haploinsufficiency caused by mutations in the CBFA1 gene,[2] 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. [3] (2nd message); see also image; YouTube video

At the rescue of Jessica McClure, Ron Short, a muscular man 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]

References

  1. ^ 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. 
  2. ^ Garg RK, Agrawal P (2008). "Clinical spectrum of cleidocranial dysplasia: a case report". Cases J 1 (1): 377. doi:10.1186/1757-1626-1-377. PMID 19063717. PMC: 2614945. http://www.casesjournal.com/content/1/1/377. 
  3. ^ http://articles.latimes.com/1987-10-17/news/mn-3702_1_jessica-mcclure

External links

v • d • e
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65-Q76, 754-756)
Limb/
dysmelia
Either/both
Craniofacial
Other axial
Abdominal wall
v • d • e
Genetic disorder: Transcription factor/coregulator deficiencies
(1) Basic domains
none
(2) Zinc finger DNA-binding domains
(3) Helix-turn-helix domains
(4) β-Scaffold factors with minor groove contacts
(0) Other transcription factors
none
Transcription coregulators
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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 Creative Commons Attribution/Share-Alike License. It uses material from the Wikipedia article "Cleidocranial dysostosis".  Read more