Juvenile Paget's Disease

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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.

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.

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

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.

Published Date: November 20, 2025
Published By: National Institutes of Health