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Conradi's disease

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Conradi's disease is a rare condition presenting with shortening of humerus and femur, lens opacities, high arched palate, and characteristic whorl like scaling.

There is an abnormality in the metabolism of long chain fatty acids, which can be diagnosed on specific enzyme assay of cultured fibroblasts or platelets.

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