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What is Cleidocranial Dysplasia?
Cleidocranial Dysplasia (cleido = collar bone, + cranial = head, + dysplasia = abnormal forming), also known as Cleidocranial Dysostosis and Marie-Sainton Disease, is a condition characterized by defective development of the cranial bones and by the complete or partial absence of the collar bones (clavicles). Characteristics include:

Delayed closure (ossification) of the space between the bones of the skull (fontanels) Protruding jaw (mandible) and protruding brow bone (frontal bossing)
Wide nasal bridge due to increased space between the eyes (hypertelorism)
High arched palate or possible cleft palate
Short stature
Scoliosis of the spine

Why did this happen?
There is no link between anything the mother did or did not do while she was pregnant and the occurrence of Cleidocranial Dysplasia. It is transmitted as an autosomal dominant trait. CCD is caused by mutation in the RunX2 gene on Chromosome 6p21.

Will this happen to children I have in the future?
If both parents are unaffected, it is called a spontaneous genetic mutation and the chances of having another child with it are very small. If one parent is affected, it is called an inherited genetic mutation and there is a 50% chance that a child will have it. Of all the cases of Cleidocranial Dysplasia, one-third are spontaneous and two-thirds are genetic.

What kinds of problems could my child have?
In addition to the physical characteristics common to Cleidocranial Dysplasia, your child may have the following problems:

Dental abnormalities - failure to lose the baby teeth (deciduous) at the expected time; slow eruption of secondary teeth; extra teeth; delayed or absent formation of teeth

Ability to touch the shoulders together in front of the body
Wide pelvic bone
Loose joints
Hearing loss and/or frequent infections

Will my child need surgery?
Due to the fact that the dental problems are the most significant complications, appropriate dental/orthodontic work is vital. Some of the suggested treatment options include the following:

Apply dentures over the unerupted teeth
Teeth removal as they erupt, because very little bone structure would be left if the supernumerary, impacted, and unerupted teeth were all extracted at once
Some doctors suggest that the removal of primary or supernumerary teeth does not promote eruption of unerupted permanent teeth. In addition, permanent teeth may be difficult to extract due to malformed roots.

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