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Cleidocranial dysostosis

Definition:

Cleidocranial dysostosis is an inherited disorder of bone development, characterized by absent or incompletely formed collar bones, abnormal shape of the skull with depression of the sagittal suture, characteristic facial appearance, short stature, and dental abnormalities.



Causes, incidence, and risk factors:

Cleidocranial dysostosis is inherited as an autosomal dominant characteristic, which means that if one parent is affected, each child has a 50% chance of having the disease. Any child who inherits the gene for the condition from the affected parent, regardless of the other parent's normal gene, will develop it.

The disorder is present from before birth (congenital) and equally common in males and females. People with cleidocranial dysostosis have a heavy protruding brow, a protruding jaw, and a wide nasal bridge. As these children mature, adult teeth may come in late, and an extra set of adult teeth develops, which causes the normal teeth to become misaligned.

The incomplete development or absence of the collar bones allows the shoulders to be brought together in front of the body. Other bone abnormalities exist. Intelligence is normal.




Review Date: 10/22/2004
Reviewed By: Brendan T. Campbell, MD, MPH, Department of Surgery, Arkansas Children's Hospital, Little Rock, AR. Review provided by VeriMed Healthcare Network.

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