Q78: Other osteochondrodysplasias

Q78.3: Progressive diaphyseal dysplasia

Bones consist mainly of bone cells, certain proteins and various minerals. The minerals include calcium and phosphate, in particular. The bone tissue is constantly being broken down and built up again. This enables bones to adapt well to loading. There is usually a balance between the growth and breakdown of bone tissue.

A change in genetic makeup has caused the bone tissue to increase and be thicker than normal in this condition. The condition can be hereditary. Other family members may therefore also be affected.

Typically the bones in the arms and legs are thickened by the excess bone tissue. Other bones may also be changed, for example in the skull or spine.

The condition can cause the bones to hurt and problems with walking. The muscles can quickly become weak. Various symptoms of the eyes or ears may also occur.