Genetic connective tissue disorders are inherited conditions. They impact how flexible and strong the body’s tissues are. The tissues help support and connect parts of the body, like the organs, joints, skin and blood vessels.

A key feature of connective tissue is elasticity. This means it can stretch and bounce back, just like a rubber band.

When connective tissue doesn’t work right, it may impact many parts of the body, including:

• Heart and blood vessels
• Skin
• Lungs
• Joints
• Bones
• Eyes

Connective tissue diseases normally run in families. How serious it is can be different from one child to another. The most serious complications normally involve the heart valves and the aorta. The aorta is the main blood vessel that carries blood from the heart to the rest of the body.

These complications often include:

• Aortic aneurysm and dissection: This happens when the layers inside the aorta weaken. This can cause it to burst or tear and leak blood into the chest or abdomen.
• Mitral valve prolapse: This is a valve problem. It causes the blood from the left ventricle to flow backwards into the heart's left atrium.
• Arrhythmia (or dysrhythmia): This is a fast, slow or irregular heartbeat.
• Aortic regurgitation: This is when blood leaks backward from the aorta into the heart's left ventricle. This causes stress on the heart and not enough blood flow to the body.

Many types of connective tissue diseases can run in families.

Marfan Syndrome

Marfan syndrome impacts the body’s connective tissue, which helps hold everything together. It can make bones grow longer than normal. It can also cause other problems with the heart, blood vessels, eyes, muscles, skin and lungs.

People with Marfan syndrome often have tall, thin bodies and flexible joints.

Ehlers-Danlos

Ehlers-Danlos syndrome (EDS) impacts the strength and flexibility of the skin, joints and blood vessels. People with EDS may have very stretchy skin and joints that move more than normal (hypermobile). This can cause joint pain and easy bruising. Some types can also impact organs and blood vessels.

Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is also called brittle bone disease. It makes a person’s bones break easily. This sometimes happens with little to no injury.

OI happens because the body doesn’t produce strong enough protein that keeps bones healthy and strong (collagen). People with OI may also be short, have hearing loss or have curved or bent bones.

Loeys-Dietz

Loeys-Dietz syndrome impacts blood vessels, bones and other parts of the body. It can cause blood vessels, mainly the aorta, to stretch or tear more easily. This can be life-threatening if not treated.

Other signs include wide-set eyes and flexible joints. The uvula — the small tissue hanging at the back of the throat — may also be split.

Stickler Syndrome

Stickler syndrome is a genetic condition that impacts collagen, a vital part of the body’s connective tissue. It can cause problems with vision, hearing, joints and facial development. Kids with Stickler syndrome may have flat faces, joint pain and be at risk for eye problems.

Cutis Laxa

Cutis laxa is a rare genetic condition that causes the skin to not have its normal elasticity. This can make the skin look loose and saggy. In some cases, it also impacts the lungs, heart and other organs. There are different types of cutis laxa, and they can be mild to life-threatening.

At Children’s Wisconsin, we use the latest tools to diagnose, track and manage connective tissue disorders. This has led to longer, healthier lives for many of our patients.

In the past, without early diagnosis and treatment, these conditions often led to serious heart and blood vessel problems. The result was a much lower life expectancy. Today, our care is changing that. 

Hereditary Disorders of Connective Tissue Program

This Hereditary Disorders of Connective Tissue Diseases (HCT) Program is part of our Genetics and Genomics Program. We diagnose and treat kids with connective tissue disorders and related problems. We also offer education and counseling.

Doctors can also refer adults to the HCT Program. HCT staff will look over these referrals to make sure they are a good fit for the program.

Marfan Syndrome and Connective Tissue Disorders Program

The Herma Heart Institute’s Marfan Syndrome and Connective Tissue Disorders Program is the largest in Wisconsin. It is known nationally for its expertise in caring for children and adults with rare genetic connective tissue disorders. We partner with our Adult Congenital Heart Disease Program to provide the best care long into adulthood.

To schedule a visit, please call (877) 607-5280.

Before

For new patients, we may ask you to fill out forms through MyChart before your visit. Please complete these to the best of your ability. Our care team will look these over with you and your child during your visit.

We may ask you to bring to your child’s visit:

• A list of your child’s medicines
• Your child’s education plan, if applicable
• Your health insurance card
• Related family history
• Related genetic testing results for your child or a family member
• Health records, including imaging, from outside Children’s Wisconsin

During

The first clinic visit takes about one to two hours. We may ask you to fill out paperwork once you arrive.

During the first visit:

• Your child will see a genetic counselor, doctor or other expert.
• They will go over your child’s medical and family history and complete a physical exam.
• The team will share the results with you and answer any questions you have.

They may order more tests, including:

• Genetic testing
• Echocardiogram (a scan of the heart)
• Imaging such as X-rays

After

A genetic counselor, a doctor or other experts may continue to see your child for follow-up visits.