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CHILD Syndrome - Medical Condition Information

CHILD Syndrome

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CHILD syndrome is a rare genetic disorder characterized by congenital hemidysplasia, ichthyosiform erythroderma, and limb defects. The term CHILD is a legacy acronym standing for Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects. It is now classified among disorders of skin and limb development caused by mutations affecting cholesterol biosynthesis, specifically in the NSDHL gene. The condition primarily affects one side of the body and involves skin abnormalities and limb malformations.

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