Cleidocranial dysostosis

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Cleidocranial dysostosis

Cleidocranial dysostosis, also called Cleidocranial dysplasia, is a hereditary congenital disorder

Congenital disorder

Congenital disorder involves defects in or damage to a developing fetus. It may be the result of Genetics abnormalities, the intrauterine environment, errors of morphogenesis, or a chromosomal abnormality....
due to haploinsufficiency

Haploinsufficiency

Haploinsufficiency occurs when a diploid organism only has a single functional copy of a wild-type gene and the single functional copy of the gene does not produce enough of a gene product to bring about a wild-type condition, leading to an abnormal or diseased state....
caused by mutations in the CBFA1 gene, located on the short arm of chromosome 6.

It is usually autosomal dominant, but in some cases the cause is not known.

docranial dysostosis is a general skeletal condition so named from the collarbone (cleido-) and cranium deformities which people with it often have.

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Encyclopedia

Cleidocranial dysostosis, also called Cleidocranial dysplasia, is a hereditary congenital disorder

Congenital disorder

Haploinsufficiency

Presentation

Cleidocranial dysostosis is a general skeletal condition 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
Hypermobility

Hypermobility describes joints that stretch farther than is normal. For example, some hypermobile people can bend their thumbs backwards to their wrists, bend their knee joints backwards, move arms from near their buttocks to the front of their stomach by holding hands and going over the head, or put their leg behind the head....
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
Fontanelle

A fontanelle is an human anatomy feature on an infant's skull. Fontanelles are soft spots on a baby's head which, during birth, enable the bony plates of the skull to flex, allowing the child's head to pass through the birth canal....
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
Permanent teeth

Permanent teeth are the second set of teeth formed in humans. There are thirty-two permanent teeth, consisting of six maxillary and six Mandible Molar , four maxillary and four mandibular premolar, two maxillary and two mandibular Canine tooths, four maxillary and four mandibular incisor....
include supernumerary teeth
Hyperdontia

Hyperdontia is the condition of having supernumerary teeth, or tooth which appear supernumerary body part to the regular number of 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
Permanent teeth

Permanent teeth are the second set of teeth formed in humans. There are thirty-two permanent teeth, consisting of six maxillary and six Mandible Molar , four maxillary and four mandibular premolar, two maxillary and two mandibular Canine tooths, four maxillary and four mandibular incisor....
not erupting
Bossing (bulging) of the forehead
Forehead

In human anatomy, the forehead or brow is the bony part of the head above the eyes....
.
Hypertelorism
Hypertelorism

Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the eyes , seen in a variety of syndromes, including Basal Cell Nevus syndrome, DiGeorge syndrome and Loeys-Dietz syndrome....

Notable cases

The comedian

Comedian

A comedian or comic is a person who seeks to entertain members of an audience, primarily by making them laughter. This might be through jokes or amusing situations, or acting a fool, as in slapstick, or employing prop comedy....
Emmett Furrow has no collarbones and uses the resulting extra shoulder mobility in comedy routines. (2nd message); see also ;

External links

Images from MedPix