Connective tissue is made of different proteins such as collagen and elastin. It is the structure that supports the skin, eyes, heart, blood vessels and skeletal system. When the genes that carry the instructions for making connective tissue are damaged, abnormalities in these tissues can result. Among the most common connective tissue disorders are Marfan syndrome and Ehlers-Danlos syndrome (EDS).
Marfan syndrome occurs in one in every 5,000 births and is a genetic condition, which can be inherited from an affected parent or can be caused by a new gene mutation. The symptoms of Marfan syndrome are more likely to increase with age. Symptoms include:
There are many forms of EDS. The most common is EDS Type III, hypermobility type. Other forms such as classic, vascular type and kyphoscoliotic type (among others) are rarer. The majority of EDS types are inherited in an autosomal dominant manner, meaning only one mutation in a causative gene is necessary to cause symptoms. There is frequently a family history of joint hypermobility and/or skin manifestations in other family members whose symptoms may vary in severity. The symptoms of EDS can vary significantly from one person to another, even within families. The most common symptoms of Ehlers-Danlos syndrome include:
Geneticists at Riley at IU Health will follow detailed criteria in order to determine if you or your child has Marfan syndrome.
Diagnostic testing for Marfan syndrome may include:
A diagnosis of EDS is generally made based on clinical symptoms. Gene testing is available for all types of EDS but Type III and may be recommended if a diagnosis is not certain or to confirm a clinical diagnosis.
If you or your child has a connective tissue disorder, you may meet with a genetic counselor who will discuss the condition in more detail, review the inheritance risk and ensure that proper health screenings are being completed.
Treatment options for Marfan syndrome may include:
Treatment options for EDS may include:
Visit the following websites to learn more about connective tissue disorders.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
Genetics Home Reference, an online resource from the U.S. National Library of Medicine, provides in-depth information about Marfan syndrome
Find more information on the diagnosis and management of Ehlers-Danlos syndrome.
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