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📋Overview
CHILD Syndrome, an acronym for Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects, is a rare developmental disorder caused by mutations in the NSDHL gene. This genetic change disrupts cholesterol biosynthesis, a process essential for the normal formation of skin and skeletal structures.
The condition is characterized by distinctive skin abnormalities and skeletal underdevelopment that typically affect only one side of the body. These clinical features may be present at birth and occur due to the loss of functional proteins required for healthy tissue growth during embryonic development.
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