What Is Connective Tissue?

Connective tissue supports many parts of the body (skin, eyes, heart, etc.). Think of it as "cellular glue" that:

1. Helps bring nutrients to the tissue
2. Gives tissue form and strength
3. Helps some of the tissues do their work.

Connective tissue is made of many kinds of proteins. Sometimes genes that have changed make proteins that don't do their job right. This can change how the connective tissues work. Sometimes this leads to an HDCT.

What Are Some Kinds of Heritable Disorders of Connective Tissue?

Common HDCTs include:

1.Ehlers-Danlos syndrome (EDS). This group of HDCTs mostly affects the skin and joints. With EDS, connective tissue becomes weak. This can cause fragile, sagging skin, and loose joints.
2. Epidermolysis bullosa (EB). With these disorders, the skin blisters when it is stressed. For example, a hug could cause a blister.
3. Marfan syndrome. This disorder can affect the heart, blood vessels, lungs, eyes, bones, and ligaments. People with this syndrome may be unusually tall and thin, with long arms and legs.
4. Osteogenesis imperfecta (OI). With this disorder, bones break easily. Sometimes they break for no obvious reason.

Who Gets Heritable Disorders of Connective Tissue?

There could be as many as 1 million people in the United States with an HDCT. It can affect anyone. Some of these disorders are obvious at birth. Others don't become obvious until later in life.

Does Anything Increase the Chances of Having a Genetic Disease?

Several things make people more likely to get or pass on a genetic disease:

• Parents who have a genetic disease
• A family history of a genetic disease
• Parents who are closely related
• Parents who come from a region where the defect is common
• Parents who don't have disease symptoms but "carry" a certain gene (sometimes this gene is found through genetic testing).