Genetics Home Reference
The U.S. National Library of Medicine offers consumer information about connective tissue disorders including Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Marfan syndrome and many others.
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Disorders impacting the tissue between cells that affect your skin, spinal cord, eyes, heart, blood vessels and skeletal system
Connective tissue consists 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 improperly form and harm the proteins and body parts they connect.
Physicians frequently misdiagnose or have difficulty identifying connective tissue disorders. At IU Health, highly skilled physicians trained in identifying connective tissue disorders can diagnose your issues and help you manage symptoms.
IU Health physicians know that each genetic change can cause many different conditions, resulting in mild to severe problems. More than 200 connective tissue disorders exist and each has its own symptoms. Some present at birth; others appear later in childhood or adulthood.
When 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. It may also impact your bones, joints and skin.
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 improperly form and harm the proteins and body parts they connect.
Physicians frequently misdiagnose or have difficulty identifying connective tissue disorders. At IU Health, highly skilled physicians trained in identifying connective tissue disorders can diagnose your issues and help you manage symptoms.
IU Health physicians know that each genetic change can cause many different conditions, resulting in mild to severe problems. More than 200 connective tissue disorders exist and each has its own symptoms. Some present at birth; others appear later in childhood or adulthood.
When 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. It may also impact your bones, joints and skin.
At IU Health Medical Genetics, our geneticists and physicians will introduce you to subspecialists who can manage your care. Connective tissue disorder conditions require extensive help to manage the many cardiovascular, skin, skeletal, vision and other symptoms that may present themselves.
IU Health physicians will partner with specialized genetics clinics. These centers will give you access to the most up-to-date therapies available for your specific connective tissue disorder.
Physicians at IU Health Medical Genetics, will 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 will explain your specific condition, how it may change over time and which treatments and services will help. Our genetic counselors work with the IU School of Medicine Division of Clinical and Biochemical Genetics.
Connective tissue disorders can cause complications with your heart, blood vessels, bones, joints and skin. You can access the following treatment options:
Several connective tissue disorders weaken your blood vessels. This can lead to serious cardiovascular conditions. The most common conditions include:
A ballooning of your blood vessels is common, especially in Ehlers-Danlos, Loeys-Dietz and Marfan syndromes. Thoracic aortic aneurysms occur in the sections of the aorta closest to your heart. Abdominal aortic aneurysms form in the section of the abdominal aorta below the kidneys. Regular monitoring by computed tomography (CT) scans and magnetic resonance imaging (MRI) of the aorta and controlling risk factors through diet, exercise and medicines may prevent serious issues such as vessel rupture. Surgical repair is a treatment option. If the aorta balloons too much, a synthetic replacement can be used to repair the damaged section of your aorta.
With Loeys-Dietz syndrome, your arteries tend to kink up or twist, instead of being straight. This puts you at risk for aneurysms and stroke. Monitoring with computed tomography (CT) scans and magnetic resonance imaging help to manage weak areas and plan interventions, as needed.
Treatment options for these cardiovascular conditions include:
Connective tissue disorders cause many issues with your bones, joints and skeletal system. Some of those conditions include:
The genetic differences of connective tissue disorders can change the appearance, function and health of your skin. Some of the skin conditions include:
Connective tissue disorders can impact every body system. The following include additional conditions that go with these genetic diseases:
At IU Health Medical Genetics, our geneticists and physicians will introduce you to subspecialists who can manage your care. Connective tissue disorder conditions require extensive help to manage the many cardiovascular, skin, skeletal, vision and other symptoms that may present themselves.
IU Health physicians will partner with specialized genetics clinics. These centers will give you access to the most up-to-date therapies available for your specific connective tissue disorder.
Physicians at IU Health Medical Genetics, will 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 will explain your specific condition, how it may change over time and which treatments and services will help. Our genetic counselors work with the IU School of Medicine Division of Clinical and Biochemical Genetics.
Connective tissue disorders can cause complications with your heart, blood vessels, bones, joints and skin. You can access the following treatment options:
Several connective tissue disorders weaken your blood vessels. This can lead to serious cardiovascular conditions. The most common conditions include:
A ballooning of your blood vessels is common, especially in Ehlers-Danlos, Loeys-Dietz and Marfan syndromes. Thoracic aortic aneurysms occur in the sections of the aorta closest to your heart. Abdominal aortic aneurysms form in the section of the abdominal aorta below the kidneys. Regular monitoring by computed tomography (CT) scans and magnetic resonance imaging (MRI) of the aorta and controlling risk factors through diet, exercise and medicines may prevent serious issues such as vessel rupture. Surgical repair is a treatment option. If the aorta balloons too much, a synthetic replacement can be used to repair the damaged section of your aorta.
With Loeys-Dietz syndrome, your arteries tend to kink up or twist, instead of being straight. This puts you at risk for aneurysms and stroke. Monitoring with computed tomography (CT) scans and magnetic resonance imaging help to manage weak areas and plan interventions, as needed.
Treatment options for these cardiovascular conditions include:
Connective tissue disorders cause many issues with your bones, joints and skeletal system. Some of those conditions include:
The genetic differences of connective tissue disorders can change the appearance, function and health of your skin. Some of the skin conditions include:
Connective tissue disorders can impact every body system. The following include additional conditions that go with these genetic diseases:
The U.S. National Library of Medicine offers consumer information about connective tissue disorders including Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Marfan syndrome and many others.
This government agency provides information about connective tissue disorders including diagnosis, prevalence and treatments.
This national nonprofit organization provides support for individuals and families living with this connective tissue disorder. It also funds research.
This national foundation fosters research, education and patient support for those living with Marfan syndrome and many of the Marfan-like conditions, including Loeys-Dietz syndrome. It also provides extensive information about rare connective tissue disorders, including Shprintzen-Goldberg syndrome.
The U.S. National Library of Medicine offers consumer information about connective tissue disorders including Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Marfan syndrome and many others.
This government agency provides information about connective tissue disorders including diagnosis, prevalence and treatments.
This national nonprofit organization provides support for individuals and families living with this connective tissue disorder. It also funds research.
This national foundation fosters research, education and patient support for those living with Marfan syndrome and many of the Marfan-like conditions, including Loeys-Dietz syndrome. It also provides extensive information about rare connective tissue disorders, including Shprintzen-Goldberg syndrome.