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Cleidocranial Dysplasia
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Cleidocranial Dysplasia / Rubber Man / Marie-Sainton disease / Mutational Dysostosis
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Cleidocranial Dysplasia (CCD) - Overview |
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Cleido - refers to the collarbone or clavicle Cranial - refers to the Skull Dysplasia - refers to abnormal structure or growth of an organ. A person affected by this condition is able to bend his shoulder at will thus giving rise to the sobriquet of the "rubber man." The collar bone maybe partially or completely absent. Besides the collarbone and skull it can also affect pelvis and chest region. Invariably there is abnormal development of teeth. Some do not erupt and there maybe some in abnormal areas. It is a rare condition that is often inherited from a parent in an autosomal dominant manner. This means that if one of the parent have the disease - there are 50:50 chance of each child inheriting this rare condition. Boys and girls stand an equal chance of getting affected. The gene for the condition is located on chromosome 6. However despite the deformity the life expectancy is normal. Women affected by the condition may have complication during delivery due to the narrow pelvis. Prompt dental and orthodontic care maybe required in these patients. |
Latest Publication and Research on Cleidocranial Dysplasia - Updated on 04/18/2013.
6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay. - Published by PubMed
A novel in-frame deletion of the RUNX2 gene causes a classic form of cleidocranial dysplasia. - Published by PubMed
Cleidocranial dysplasia: complete clinical, radiological and histological profiles. - Published by PubMed
[Cleidocranial dysplasia: two cases report and signature analysis]. - Published by PubMed
Clavicle lengthening by distraction osteogenesis for congenital clavicular hypoplasia: case series and description of technique. - Published by PubMed
6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay. - Published by PubMed
A novel in-frame deletion of the RUNX2 gene causes a classic form of cleidocranial dysplasia. - Published by PubMed
Cleidocranial dysplasia: complete clinical, radiological and histological profiles. - Published by PubMed
[Cleidocranial dysplasia: two cases report and signature analysis]. - Published by PubMed
Clavicle lengthening by distraction osteogenesis for congenital clavicular hypoplasia: case series and description of technique. - Published by PubMed
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Comment & Contribute
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Posted by:
asajael(Guest)
Posted on: 12/06/2008 I have CCD. This biggest issue for me is the lack of structure. Therefore my arms are weak and hurt all the time. My back will hurt unbelievable if I stand in one place fore more than 5 minutes. I wish the educated doctors would get educated about this. I am so frustated with the lack of information and what I do find is very under ratedly correct. The biggest problem is not my mouth. This about this: if you were to build a house out of 1"x1"s and take a chuck or two out of it here and there... how long do you think it would last??? Do you really think with the shoulders not being formed correctly that it would not have an effect. Did you have to think about that first? Is there anyone out there who has some common sense on the matter???
Posted by:
guest
Posted on: 08/28/2008 I have CCD and the information on this site is incorrect. To state that one has to have dentures in today's medical advancements is so sad. I am moderator of a yahoo Cleidocranial Dysplasia site and the truth is this is no longer a fact. Myself and my children, plus many others have been successfully treated and have their own their own gorgeous smiles. Making such a broad statement makes people who find out their child has CCD and searching for answer and have no idea what to expect with CCD feel like there is no hope and there is.
Posted by:
mkhfsd
Posted on: 12/31/2012 your message give us hope. I am uncle of two CCD effected nephew. My family is worried about their growth. We are living in Pakistan and doctor identified the problems through symptoms like missing bone in shoulders, child hood teeth are not dropped yet at the age of 10. 2nd boy age is 5 and his legs has bend. can you pls suggest some thing |
right now i can't find any body with theis kind of information please tell me what i am looking forward to when he gets older