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Definition of Collagenopathy

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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