Q77: Osteochondrodysplasia with defects of growth of tubular bones and spine

Q77.7: Spondyloepiphyseal dysplasia

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. If tissue fails to develop properly, defects can occur.

With this condition the bones and cartilage, in particular, do not develop properly. As a result, the body is smaller. The arm and leg bones are shortened. The ends of the bones concerned are also deformed. As a result, the bones may wear down considerably over time. The condition has also affected the spine. As a result, the upper body is typically shorter than usual. The lower back may be particularly arched. The hips, ears and eyes may also be deformed.

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