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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the LBR gene cause Greenberg dysplasia. This gene provides instructions for making a protein called the lamin B receptor. One region of this protein, called the sterol reductase domain, plays an important role in the production (synthesis) of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals: eggs, meat, fish, and dairy products. Cholesterol is necessary for normal embryonic development and has important functions both before and after birth. Cholesterol is an important component of cell membranes and the protective substance covering nerve cells (myelin). Additionally, cholesterol plays a role in the production of certain hormones and digestive acids. During cholesterol synthesis, the sterol reductase function of the lamin B receptor allows the protein to perform one of several steps that convert a molecule called lanosterol to cholesterol.</p><p>LBR gene mutations involved in Greenberg dysplasia lead to loss of the sterol reductase function of the lamin B receptor, and research suggests that this loss causes the condition. Absence of the sterol reductase function disrupts the normal synthesis of cholesterol within cells. This absence may also allow potentially toxic byproducts of cholesterol synthesis to build up in the body&#x27;s tissues. Researchers suspect that low cholesterol levels or an accumulation of other substances disrupts the growth and development of many parts of the body. It is not known, however, how a disturbance of cholesterol synthesis leads to the specific features of Greenberg dysplasia.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/greenberg-dysplasia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Greenberg dysplasia?"},{"bodyHtml":"<p>The bones of affected individuals do not develop properly, causing a distinctive spotted appearance called moth-eaten bone, which is visible on x-ray images. In addition, the bones have abnormal calcium deposits (ectopic calcification). Affected individuals have extremely short bones in the arms and legs and abnormally flat vertebrae (platyspondyly). Other skeletal abnormalities may include short ribs and extra fingers (polydactyly). In addition, affected fetuses have extensive swelling of the body caused by fluid accumulation (hydrops fetalis). Greenberg dysplasia is also called hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM), which reflects the condition&#x27;s most common features.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/greenberg-dysplasia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"greenberg-dysplasia","sourceDocuments":[{"name":"Greenberg dysplasia","reviewed":"2012-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:57.734050+00:00","label":"Causes","pageSha256":"2cdc4362a0dcac3acdca53cb04f4a8f9489a78d89f875ddc2b8bf760dcb8ed6f","sourceUrl":"https://medlineplus.gov/genetics/condition/greenberg-dysplasia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/greenberg-dysplasia"}],"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":"Greenberg dysplasia"},"schemaVersion":1}