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Forum Name: Degenerative Bone Diseases

Question: Cleidocranial Dysostosis


 ppm - Fri Apr 01, 2005 3:26 pm

Looking for help!

I am a 27 year old male born with Cleidocranial Dysostosis. Research tells me that this birth defect is hereditary but no one that I can find in my family tree has it. I am looking at starting a family in the near future and would like any information that I can obtain about passing this on to my children. I am wondering if any symptoms of this can be noticed in an amnio? If not, how long into the pregnancy does it take to notice the symptoms? Any information that you can give me would be greatly appreciated.

Thank You,
Paul
 Rhonda P, CEP - Thu Apr 07, 2005 8:34 pm

User avatar Hello Paul,

The American Journal of Human Genetics has quite a few articles on Cleidocranial dysostosis. This 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. Cleidocranial dysostosis causes an incomplete development or absence of the collar bones and allows the shoulders to be brought together in front of the body. Other bone abnormalities also exist and the persons Intelligence is usually normal. The disorder is present from before birth (congenital) and equally common in males and females.

Genetic counseling is appropriate for prospective parents with a family history of cleidocranial dysostosis, or if one or both parents are affected.

I don’t believe it can be picked up by Amniocentesis but it can be found on Ultrasound or X-ray

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