Connective tissue diseases

More than 200 heritable disorders of connective tissue (HDCTs) affect the tissues between the cells of our body. The disorders are called "heritable," because they are passed on from parents to their children. HDCTs come from changes (alterations or mutations) to genes responsible for building tissues. Alterations in these genes may change the structure and development of skin, bones, joints, the heart, blood vessels, lungs, eyes, and ears. Some mutations also change how these tissues work.

Some other connective tissue problems are not directly linked to mutations in tissue-building genes, although some people may be genetically predisposed to becoming affected.