Cleidocranial Dysplasia / Rubber Man / Marie-Sainton disease / Mutational Dysostosis

Cleidocranial Dysplasia (CCD) is also referred to as Marie-Sainton disease or Mutational Dysostosis. This complicated sounding condition medically has the following meaning-

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.