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Connective Tissue Disorders

Connective tissue is made of different proteins such as collagen and elastin. It supports and stores energy for many parts of your body, including your skin, spinal cord, eyes, heart, blood vessels and skeletal system. Connective tissue disorders change the tissue between your cells.

When the genes that carry the instructions for making connective tissue proteins mutate, the body makes proteins that do not work properly. The collagen and elastin become inflamed or are improperly formed and the proteins and the body parts they connect are harmed.

Connective tissue conditions are frequently misdiagnosed and can be difficult to identify. Each genetic change can cause many different conditions, resulting in mild to severe problems. There are more than 200 connective tissue disorders and each has its own symptoms. Some are apparent at birth; others appear later in childhood or adulthood.

When you are diagnosed with a connective tissue disorder, you begin a lifelong journey of learning how to care for your body to avoid serious complications. Many connective tissue disorders carry high risks for life-threatening heart and blood vessel conditions. Your bones, joints and skin may also be impacted.

At Indiana University Health Medical Genetics, our geneticists and physicians know how to identify problems early and connect you with subspecialists who can manage your care. Connective tissue disorder conditions require extensive care to manage the many cardiovascular, skin, skeletal, vision and other symptoms that may present themselves. Our team will access and connect you with the subspecialists you need to manage the health conditions that accompany your condition. 

We partner with specialized genetics clinics. These diagnosis and treatment centers give you access to the most up-to-date therapies available for your specific connective tissue disorder.

Our skeletal dysplasia clinic specializes in treating osteogenesis imperfecta in children.

At IU Health Medical Genetics, we collaborate with other specialists, including cardiologists and orthopedists, to create a multidisciplinary program to treat and monitor your symptoms and keep you healthy.

When genetic testing confirms a connective tissue disorder, you will have many questions. A genetic counselor explains your specific condition, how it may change over time and which treatments and services are helpful. Our genetic counselors are affiliated with the IU School of Medicine Division of Clinical and Biochemical Genetics.

How We Can Help

How We Can Help

Connective Tissue Disorders Treatment Information

Connective tissue disorders can cause complications with your heart, blood vessels, bones, joints and skin. Below are treatment options available to help with each.

Cardiovascular Health

Several connective tissue disorders weaken your blood vessels. This can lead to serious cardiovascular conditions. Below are the most common and their treatment options.

Skeletal Health

Connective tissue disorders cause many issues with your bones, joints and skeletal system. Here are some of those conditions and their treatments.

Skin Health

The genetic differences of connective tissue disorders can change the appearance, function and health of your skin. Some of the skin conditions and treatment options are below.

Other Conditions

Connective tissue disorders can impact every body system. Below are additional conditions and treatments that accompany these genetic diseases.


Connective Tissue Disorders Locations & Physicians

Use the search options below to find treatments available in your area.

Find a Specialist

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Connective Tissue Disorders Support Services

Learn more about connective tissue disorder treatments at these websites: