Heritable Disorders of Connective Tissue

What are they?

Points To Remember About Heritable Disorders of Connective Tissue

• There are more than 200 heritable disorders that can affect the tissues between the cells of your body that give tissues form and strength.
• All of these diseases are related to problems in genes that are responsible for building connective tissues.
• Some heritable disorders of connective tissue change the look and growth of skin, bones, joints, heart, blood vessels, lungs, eyes, and ears. Others change how these tissues work.
• Treatments can include regular check-ups with your doctor as well as medicines or nutritional supplements.
• A nutritious diet, exercise, and healthy lifestyle habits can also help.

There are more than 200 heritable disorders of connective tissue that can affect the tissues between the cells of your body that give tissues form and strength. All of these diseases are directly related to problems in genes that are responsible for building connective tissues. The disorders are called “heritable,” because they are passed on from parent to child.

Some heritable disorders of connective tissue change the look and growth of skin, bones, joints, heart, blood vessels, lungs, eyes, and ears. Others change how these tissues work. Many, but not all, are rare.

Common heritable disorders of connective tissue include:

• Ehlers-Danlos syndrome mostly affects the skin and joints. Connective tissue becomes weak, which can cause loose joints and fragile, sagging skin.
• Epidermolysis bullosa affects the skin, causing blisters.
• Marfan syndrome 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.
• Osteogenesis imperfecta causes bones to break easily. Sometimes they break for no obvious reason.