Medical Definition of Collagenopathy

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Collagenopathy: Any one of a congenital and rare group of disorders that affect connective tissue. Connective tissue supports the body's joints and organs. The collagenopathies are caused by defects in type II or type XI collagen. Collagens are complex molecules that provide structure, strength, and elasticity (the ability to stretch) to connective tissue. The conditions are considered together because type II and type XI collagen are both components of a particular type of cartilage (hyaline cartilage) in joints and the spinal column, the inner ear, and the jelly-like substance that fills the eyeball (the vitreous), resulting in similar clinical features.

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Reviewed on 12/21/2018

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