Cleidocranial dysostosis

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 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

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, or the fontanelle closes late.
  • 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 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]

References

External links


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Look at other dictionaries:

  • cleidocranial dysostosis — ▪ medicine also called  cleidocranial dysplasia        rare congenital, hereditary disorder characterized by collarbones that are absent or reduced in size, skull abnormalities, and abnormal dentition. The shoulders may sometimes touch in front… …   Universalium

  • Cleidocranial dysostosis — A genetic (inherited) disorder of bone development characterized by: {{}}Absent or incompletely formed collar bones (the “cleido “ part refers to the clavicles, the collar bones) The child with this disorder can bring its shoulders together or… …   Medical dictionary

  • cleidocranial dysostosis — a congenital defect of bone formation in which the skull bones ossify imperfectly and the collar bones (clavicles) are absent …   The new mediacal dictionary

  • Дизостоз Ключично-Черепной (Cleidocranial Dysostosis) — врожденный дефект образования костей, при котором кости черепа окостеневают не полностью, а ключицы отсутствуют. Источник: Медицинский словарь …   Медицинские термины

  • CCD (cleidocranial dysostosis) — A genetic (inherited) disorder of bone development characterized by: {{}}Absent or incompletely formed collar bones (the “cleido “ part refers to the clavicles, the collar bones) The child with this disorder can bring its shoulders together or… …   Medical dictionary

  • Cleidocranial dysplasia — A genetic (inherited) disorder of bone development characterized by: {{}}Absent or incompletely formed collar bones (the “cleido “ part refers to the clavicles, the collar bones) The child with this disorder can bring its shoulders together or… …   Medical dictionary

  • dysostosis — SYN: dysosteogenesis. [dys + G. osteon, bone, + osis, condition] acrofacial d. mandibulofacial d. associated with malformations of the extremities such as defective radius and thumbs, and radioulnar synostosis. SEE ALSO: Treacher Collins syndrome …   Medical dictionary

  • Dysostosis, cleidocranial — A genetic (inherited) disorder of bone development characterized by: {{}}Absent or incompletely formed collar bones (the “cleido “ part refers to the clavicles, the collar bones) The child with this disorder can bring its shoulders together or… …   Medical dictionary

  • CLCD — cleidocranial dysostosis …   Medical dictionary

  • CLCD — • cleidocranial dysostosis …   Dictionary of medical acronyms & abbreviations


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