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Questions and Answers about Heritable Disorders of Connective Tissue

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Heritable (genetic) disorders of connective tissue are a family of more than 200 disorders that affect connective tissues. These disorders result from alterations (mutations) in genes, and thus are called “heritable.” All of these diseases are directly related to mutations in genes that are responsible for building tissues. Alterations in these genes may change the structure and development of skin, bones, joints, the heart, blood vessels, lungs, eyes, and ears. Some mutations also change how these tissues work.
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Disclaimer: The information provided here should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. The information is provided solely for educational purpose and should not be considered a substitute for medical advice.

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