Cleidocranial Dysplasia - Presentation or Signs and Symptoms

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Dr. Reeja Tharu
Medically Reviewed by The Medindia Medical Review Team  on Mar 05, 2016
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Cleidocranial dysplasia - Presentation or Signs and Symptoms

More than 100 defective conditions have been found to be associated with this condition. Cleidocranial Dysplasia besides affecting the skull bones, collarbone and teeth can also affect -

  1. Jawbones
  2. Vertebral column
  3. Pelvic or the hipbones
  4. Bones of the legs

There maybe also a wide pubic symphysis, short middle digit of the fifth fingers, delayed skeletal maturation, deafness, and broad nose with depressed bridge, retarded growth..

Some of the classic features of this condition include -

Shoulder The most striking or the diagnostic feature of Cleidocranial Dysplasia happens to be the complete absence of the clavicle or the collarbone. This is seen in almost 15 percent of the cases. In others, there is a partial absence of these bones or if present they are very thin. A person affected by this condition is able to bend his shoulder and the arm with it almost in any diectiion and their will.

Head and Neck

In the skull there are sutures or fissures in the bone of a newborn called the fontanelles. These are supposed to close soon after birth but in this condition these can remain open for a long time; resulting in large appearance of the skull or the head.

Other sutures between the skull bones also do not close leading to the formation of abnormal bones called wormian bones.

The sagittal suture, which is present at the top of the skull between the parietal bones, is often sunken deep within the skull giving it a flat appearance.

The air pockets or sinuses in the face bones such as the frontal, maxillary and the ethmoid bones can be underdeveloped.

Inside the oral or mouth cavity the upper palate may be split and gives rise to a condition called the cleft palate.

The upper jawbone or the maxilla is severely underdeveloped in relation to the lower jawbone or the mandible and the face looks unduly small.

Teeth

Primary or the milk teeth are retained for a long time can this results in delayed or no eruption of the permanent teeth. When these teeth do erupt, they have very thin roots and are prone to fracture if stressed. Dental root and crown abnormalities are also present. Radiographs of the jaw area often reveal many unerupted teeth embedded in the bone.

Sometimes extra teeth maybe present in large numbers giving rise to what are called supernumerary teeth.

Muscular Development

Cleidocranial Dysplasia basically affects the entire skeleton and could also affect the muscles. This is because the bones are underdeveloped and this results in muscular development getting affected. It is not uncommon to have reduced muscle mass in the region of the affected bones.

Differential Diagnosis

Another disease called the pycnodystosis or the Maroteaux-Lamy syndrome presents identical features as Cleidocranial Dysplasia. However Maroteaux-Lamy syndrome is differentiated by presence of dwarfism. Additionally, patients affected by this syndrome have dense and fragile bones.

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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?

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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