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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the NSDHL gene cause CHILD syndrome. This gene provides instructions for making an enzyme that is involved in the production of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals, particularly egg yolks, meat, and dairy products. Although high cholesterol levels are a well-known risk factor for heart disease, the body needs some cholesterol to develop and function normally both before and after birth. Cholesterol is an important component of cell membranes and the protective substance that covers nerve cells (myelin). Additionally, cholesterol plays a role in the production of certain hormones and digestive acids.</p><p>The variants that cause CHILD syndrome change either the amount or the activity of the NSDHL enzyme, which disrupts the normal production of cholesterol within cells. Without enough of this enzyme, potentially toxic byproducts of cholesterol synthesis can build up in the body&#x27;s tissues. Researchers suspect that low cholesterol levels can contribute to problems with the growth and development of many parts of the body. It is not known, however, exactly how a disturbance in cholesterol production leads to the specific features of CHILD syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/child-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes CHILD syndrome?"},{"bodyHtml":"<p>People with CHILD syndrome often have a skin condition characterized by large patches of skin that are red and inflamed (erythroderma) and covered with yellow, flaky scales (ichthyosis). This condition is most likely to occur in skin folds and creases and usually does not affect the face. The skin abnormalities are typically present at birth or appear within the first few weeks of life and may improve with time.</p><p>CHILD syndrome may also disrupt the formation of the arms and legs during early development. Some children with this disorder have shortened bones in the fingers or toes, while others have shortened or missing limbs. The limb abnormalities typically occur on the same side of the body as the skin abnormalities.</p><p>Some children have a curvature of the spine (scoliosis) or joint deformities that restrict movement (contractures). In some cases, CHILD syndrome affects the development of the brain, heart, lungs, and kidneys.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/child-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"child-syndrome","sourceDocuments":[{"name":"CHILD syndrome","reviewed":"2024-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:13.959760+00:00","label":"Causes","pageSha256":"6db0ec490fd94ef9c9b0f69723b32d49fe13e66686a14abc730f555bffd78117","sourceUrl":"https://medlineplus.gov/genetics/condition/child-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/child-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"CHILD syndrome"},"schemaVersion":1}