What Is Cleidocranial Dysplasia?

Reviewed on 10/22/2020

Cleidocranial dysplasia (CCD) is a rare genetic disorder that affects the development of the bones, skull, and teeth.
Cleidocranial dysplasia (CCD) is a rare genetic disorder that affects the development of the bones, skull, and teeth.

Cleidocranial dysplasia (CCD) is a rare genetic disorder that affects the development of the bones, skull, and teeth. The bones in people with CCD might be formed differently or maybe more fragile than usual. In some cases, the collar bone may be absent.

Cleido refers to the collar bone, and cranial refers to the skull; thus, cleidocranial refers to skull abnormalities. Some typical features of this condition in different areas include:

Skull and face:

Teeth:

  • Delayed loss of the baby teeth
  • Delayed appearance of adult teeth
  • Unusually shaped teeth
  • Misalignment of the teeth and jaws
  • Abnormal tooth enamel
  • Crowded teeth
  • Supernumerary (extra) teeth
  • Thin tooth enamel leading to cavities

Other features:

What causes cleidocranial dysplasia?

Cleidocranial dysplasia is caused due to mutations in the RUNX2 gene. This gene is responsible for the production of a protein that is involved in the development of the skeletal system. The RUNX2 gene mutations interfere with the development of bone, teeth, and cartilage. The condition is autosomal dominant. There is a 50% chance that the child will suffer from the disease if one parent has the disease. Sometimes, there may be a spontaneous mutation and the child may show signs of the disease though parents are normal.

What is the treatment for cleidocranial dysplasia?

Treatment depends on the individual’s symptoms. The individual has to undergo numerous reconstructive surgery and dental procedures for functional well-being. Treatment includes:

As a precaution, wear a helmet while playing sports to prevent the head injury.

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References
https://medlineplus.gov/genetics/condition/cleidocranial-dysplasia/#inheritance

https://rarediseases.info.nih.gov/diseases/6118/cleidocranial-dysplasia

https://www.hopkinsmedicine.org/health/conditions-and-diseases/cleidocranial-dysplasia-ccd

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