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CHILD syndrome , also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. The symptoms normally occur on one side of the body. The development of organs such as the brain, heart, lungs, and kidneys may also be affected. Several cases in which milder signs and symptoms have been reported in the medical literature. The condition is caused by mutations in the NSDHL gene, a gene that provides instructions for the production of an enzyme involved in the making of cholesterol. CHILD syndrome is inherited in an X-linked dominant fashion and is almost exclusively found in females.
CHILD syndrome is diagnosed based on the symptoms and through genetic testing. There is no specific treatment for CHILD syndrome, but topical creams that include a cholesterol inhibitor have been reported to improve the skin symptoms in a few patients. CHILD syndrome is very rare and less than 30 cases have been reported in the literature.
Source: GARD Last updated on 05-01-20
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