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CleidocranialDysplasia - Diagnosis

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Cleidocranial dysplasia - Diagnosis

1. Diagnosis of Cleidocranial Dysplasia is made by clinical correlation.

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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.

4.The gene for the condition has been identified and found on chromosome 6 (specifically, in band p21)..

5. 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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    Dr. Reeja Tharu. (2016, March 05). Diagnosis of Cleidocranial Dysplasia/ (CCD)/ Rubber man / Marie-Sainton disease or Mutational Dysostosis. Medindia. Retrieved on May 22, 2022 from https://www.medindia.net/patients/patientinfo/cleidocranialdysplasia_diagnosis.htm.

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Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.

Comments

sue09

my son is 12 years old he was born with ccd he wants to play football next year i am not crazy about it but now iam worried about his furture will he be able to get a job with having ccd
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

c3333

yea he will be fine im 16 and i have a job but it may be hard

angelatmyside

I am 31 years old and a mum.I, too have ccd. I often worried about what I could and couldn't do. Here I am. Don't stop your son from doing the things that he really wants to do. Let him fly and if, only if, catch him if he should fall. I doubt he will fall. I bet all through his life he has had to adapt and by the age of 16 he knows too well what he can and can't do. What we can't do we make up with what we can do. I know it's hard I have seen my mum's tears fall many a time with fear for me but I assure you what doesn't kill you just makes you so much stronger, not just for you but for your son too. xx

asajael

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???

guest

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.

guest

Anita, Could you please let me know, what kind of treatment you have gone through?

Cia722

What can be done about the teeth the will not grow back once removed?

mkhfsd

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

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