Cleidocranial Dysplasia / Rubber Man / Marie-Sainton disease / Mutational Dysostosis | |
Cleidocranial dysplasia - Diagnosis |
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1. Diagnosis of Cleidocranial Dysplasia is made by clinical correlation. 2. X-rays show collar-bone or clavicle to be absent or partially developed. 3. Genetic studies to determine the mutations can also be done but is not routinely recommended. The gene for the condition has been identified and found on chromosome 6 (specifically, in band p21).. It is the gene for the transcription factor CBFA1 (core-binding factor alpha subunit 1) and mutations of CBFA1 cause cleidocranial dysplasia. |
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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.
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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