Q77.3: Chondrodysplasia punctata

While in the womb, a certain condition prevented the bones and cartilage from developing correctly.

Cartilage is a component of the larynx and the trachea, for example. There is also cartilage in the bones. The bones in a joint are covered with cartilage. When the joint is moved, the cartilage prevents the bones from rubbing against one another. The cartilage is normally strong and elastic, with a smooth surface.

While developing in the womb, many different types of tissue develop in the body. The organs and body parts develop out of the various types of tissue. The bones and cartilage are formed while developing in the womb.

With this condition the bones and cartilage do not develop properly. This may cause calcium to be deposited in the cartilage. This can be seen on an X-ray image, for example. The calcium deposits can disperse during the early years of life.

With this condition, for example, the composition or the shape of the bones can change. The body may then be smaller. Moreover, the arms and legs may be shortened.

The condition has arisen due to a change in the genetic information. Changes to the genetic information can be inherited within the family. Other family members may therefore also be affected.