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Juvenile Paget disease
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Juvenile Paget Disease

Juvenile Paget disease is an extremely rare genetic bone disorder characterized by abnormally rapid bone remodeling, leading to weak, misshapen bones and widespread skeletal pain starting in infancy or childhood.

Overview

Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured). The specific signs and symptoms and the severity of the condition can vary among affected individuals.

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.

Symptoms and Features

Juvenile Paget disease affects the entire skeleton, resulting in widespread bone and joint pain. Common features and complications include:

  • Abnormally large and thick skull bones, which can increase head circumference and damage ear bones, leading to hearing loss
  • An abnormal curvature of the spine (kyphosis)
  • Bowing and easy fracturing of weight-bearing long bones in the legs, which can interfere with standing and walking
  • Short stature and developmental delays
  • Dental problems, such as the delayed appearance (eruption) of teeth or the early (premature) loss of teeth
  • Vision problems, which can include abnormalities of the light-sensing tissue at the back of the eye (retina)
  • An abnormal accumulation of calcium (calcification) in the walls of blood vessels
  • Rarely, a bulge (aneurysm) in the wall of the internal carotid artery, which carries blood to the brain, face, and neck, posing a risk of dangerous bleeding if it bursts

Frequency

Juvenile Paget disease is extremely rare; approximately 100 affected individuals have been reported in the medical literature.

Causes

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.

The variants in the TNFRSF11B gene 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.

Inheritance

Juvenile Paget disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Other Names for This Condition

  • Chronic congenital idiopathic hyperphosphatasemia
  • Familial Hyperphosphatasemia
  • Familial hyperphosphatasia
  • Familial idiopathic hyperphosphatasia
  • Familial osteoectasia
  • Hereditary hyperphosphatasia
  • Hyperostosis corticalis deformans juvenilis
  • Idiopathic hyperphosphatasia
  • JPD
  • Paget disease of bone 5

Frequently Asked Questions

Baseline audiometry is recommended at diagnosis, with follow‑up every 1–2 years or sooner if symptoms arise. Vascular imaging (MRI/MRA of the neck) should be performed at diagnosis and repeated every 3–5 years, or earlier if neurological signs develop.
Testing for mutations in the TNFRSF11B gene (which encodes osteoprotegerin) is the standard molecular test. Sequencing of the entire coding region, including copy‑number analysis, can detect most pathogenic variants.
Bisphosphonates (e.g., intravenous pamidronate or zoledronic acid) are the first‑line agents; they suppress osteoclast activity, improve pain, and can modestly increase bone strength. In refractory cases, denosumab (a RANKL inhibitor) may be considered under specialist supervision.
Baseline DXA (dual‑energy X‑ray absorptiometry) and whole‑body radiographs are obtained at diagnosis, then repeat DXA every 6–12 months and targeted X‑rays of symptomatic sites annually or sooner if new pain or fractures occur.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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