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Genetic and Metabolic :
Cleidocranial Dysplasia / Rubber Man / Marie-Sainton disease / Mutational Dysostosis

Cleidocranial Dysplasia, also called the Marie-Sainton disease or Mutational Dysostosis, is a congenital hereditary disorder when the collar bones (cleido) and the bones of the head (cranial) fail to develop normally. People with cleidocranial dysplasia are sometimes called rubber men because of they have loose joints and are sometimes able to touch their shoulders together in front of the body.

This cleidocranial dysplasia support group will let you get in touch with other people who have loved ones with the condition, and contact doctors and therapists also.

 

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1. Which doctor should be consulted for Cleidocranial Dysplasia?

If the dentist diagnoses the condition, then he will refer to an orthopedic doctor, an orthdontic surgeon or a cosmetic surgeon depending on the priority.

2. Is there any way to prevent Cleidocranial Dysplasia?

Since the disease is transmitted genetically Cleidocranial Dysplasia cannot be prevented.

3. Is Cleidocranial Dysplasia fatal?

No, there is no evidence to prove that the disease is a primary cause of death. People with CCD can be expected to lead a normal, productive life with symptomatic management.

4. Will my children inherit the condition if I have CCD?

This is usually an inherited condition. There is a 50% chance that a child will have it. Two-thirds causes of the condition are genetic.

5. Will my children get the condition if I do not have CCD?

This is a rare condition and it is unlikely for it to happen in your child. However if it does happen it is due to the mutation of a gene and is called a spontaneous genetic mutation. However the chances of having another child with it are very small.




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