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.