Connective Tissue

Connective tissue is the material between the cells of the body that gives tissues form and strength. This “cellular glue” is also involved in delivering nutrients to the tissue, intercellular communication, and in the functioning of certain tissues. Connective tissue is made up of dozens of proteins with a composition that varies between different tissues. Heritable diseases of the connective tissue result from mutations or defects in genes that encode proteins involved in the build-up and maintenance of the extracellular matrix.

Heritable connective tissue disorders comprise a clinically and genetically heterogeneous group of disorders, mainly characterized by fragility of the skin, ligaments and tendons, bone, the cardiovascular system, eyes and lungs. Although individually rare, together they constitute a significant proportion of genetic diseases. The symptoms of these multisystem disorders vary between different disorders, but clinical overlap between different conditions exists. Even within the same entity clinical variation is noted between different patients. Some of them cause primarily bone problems (e.g. skeletal dysplasias), while others affect the joints (e.g. Ehlers-Danlos syndrome), the skin (e.g. Ehlers-Danlos syndrome, cutis laxa), the eyes (e.g. Marfan syndrome, Pseudoxanthoma elasticum, Stickler syndrome) or vessels (e.g. Marfan syndrome and related disorders, some forms of Ehlers-Danlos syndrome, Pseudoxanthoma elasticum).

Because of the severe health risks these disorders may infer, it is critical for patients and their family members to work closely with their health care teams to get a proper diagnosis and the best available treatment.

The Center for Medical Genetics has earned a worldwide front position because of a unique combination of clinical expertise, a renowned molecular diagnostic service and state-of-the-art research.