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Chanarin-Dorfman Syndrome - Medical Condition Information

Chanarin-Dorfman Syndrome

Neutral Lipid Storage Disease with Ichthyosis
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📋Overview

Chanarin-Dorfman syndrome is a rare inherited metabolic disorder classified as a neutral lipid storage disease with ichthyosis. It is caused by mutations in the ABHD5 gene, leading to abnormal accumulation of lipid droplets in multiple tissues. The condition is characterized by congenital ichthyosis (scaly skin) and systemic involvement including muscle, liver, and neurological symptoms.

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