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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the TNFRSF11B gene cause juvenile Paget disease. This gene provides instructions for making a protein that is involved in bone remodeling, a normal process in which old bone is broken down and replaced by new bone. Bones are constantly being remodeled, and the process is carefully controlled to ensure that bones stay strong and healthy.</p><p>The variants in the TNFRSF11B gene that are associated with juvenile Paget disease cause cells to produce a version of the protein that does not function properly. As a result, bone is broken down and then replaced at a faster rate than usual. The new bone tissue is larger, less organized, and weaker than normal bone. This abnormally fast bone remodeling leads to the features seen in people with juvenile Paget disease.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/juvenile-paget-disease/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Juvenile Paget disease?"},{"bodyHtml":"<p>The features of juvenile Paget disease appear in infancy or childhood. As bones grow, they become weaker and misshapen. These abnormalities usually become more severe during the adolescent growth spurt, when bones grow very quickly.</p><p>Juvenile Paget disease affects the entire skeleton, resulting in widespread bone and joint pain. The bones of the skull tend to grow unusually large and thick, which can increase the size of the head (circumference). The abnormal growth of the skull bones can damage the bones in the ear, leading to hearing loss. The disease can also cause an abnormal curvature of the spine (kyphosis). Additionally, the weight-bearing long bones in the legs tend to bow and fracture easily, which can interfere with the ability to stand and walk.</p><p>Other features of juvenile Paget disease can include short stature; developmental delays; dental problems, such as the delayed appearance (eruption) of teeth or the early (premature) loss of teeth; and vision problems, which can include abnormalities of the light-sensing tissue at the back of the eye (retina). Affected individuals may also have an abnormal accumulation of calcium (calcification) in the walls of blood vessels. Rarely, people with juvenile Paget disease have a bulge (aneurysm) in the wall of the vessel that carries blood to the brain, face, and neck (internal carotid artery). If an aneurysm grows large, it can burst and cause dangerous bleeding.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/juvenile-paget-disease\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"juvenile-paget-disease","sourceDocuments":[{"name":"Juvenile Paget disease","reviewed":"2025-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:37.590290+00:00","label":"Causes","pageSha256":"f3e7a904fbe838468f9a895d49cc564e07e38ef6ebc7fac3d9388be31dfc8766","sourceUrl":"https://medlineplus.gov/genetics/condition/juvenile-paget-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/juvenile-paget-disease"}],"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":"Juvenile Paget disease"},"schemaVersion":1}