Some Common Questions

What is a Skeletal Dysplasia?

A skeletal dysplasia is an abnormality of development, shape and structure of the skeleton. It may become obvious before birth, at birth or during the development of the child or young adult. It may produce an abnormality of growth of part of a limb or trunk, or produce a severe deformity of the whole skeleton.

Some of these problems can be so severe as to threaten the life of the child early in development. Most of these conditions are very rare, and so few people, even doctors, will encounter them.

A Skeletal Dysplasia is usually caused by problems in the genes and occurs when:

• Someone has the disorder themselves or is a carrier for a genetic change which causes the condition. They may have no obvious signs themselves but the abnormality can become apparent in their children.


• A new mutation occurs, or in other words, there is a new genetic change in an individual.

How can skeletal dysplasias be treated?

Only rarely can these conditions be helped by hormones or other drug treatment, though with advances in drug development and understanding of the underpinning pathophysiology, this is beginning to change.

In many conditions with deformity of the bones and joints, or very marked short stature, orthopaedic operations can be of great assistance. In childhood bones can be lengthened and deformities straightened so as to reduce the risk of developing a painful arthritis later. Orthopaedic care can help with treating arthritic joints later in life. Early diagnosis and a clear understanding of the genetic factors involved can help families to plan for the future.