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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®

Juvenile Paget disease

Reviewed February 2010

What is juvenile Paget disease?

Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured).

The signs of juvenile Paget disease appear in infancy or early childhood. As bones grow, they become progressively weaker and more deformed. These abnormalities usually become more severe during the adolescent growth spurt, when bones grow very quickly.

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 lead to hearing loss. The disease also affects bones of the spine (vertebrae). The deformed vertebrae can collapse, leading to abnormal curvature of the spine. Additionally, weight-bearing long bones in the legs tend to bow and fracture easily, which can interfere with standing and walking.

How common is juvenile Paget disease?

Juvenile Paget disease is rare; about 50 affected individuals have been identified worldwide.

What genes are related to juvenile Paget disease?

Juvenile Paget disease is caused by mutations in the TNFRSF11B gene. 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 new bone is created to replace it.

Bones are constantly being remodeled, and the process is carefully controlled to ensure that bones stay strong and healthy. Mutations in the TNFRSF11B gene lead to a much faster rate of bone remodeling starting early in life. Bone tissue is broken down more quickly than usual, and when new bone tissue grows it is larger, weaker, and less organized than normal bone. This abnormally fast bone remodeling underlies the problems with bone growth characteristic of juvenile Paget disease.

Related Gene(s)

Changes in this gene are associated with juvenile Paget disease.


How do people inherit juvenile Paget disease?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of juvenile Paget disease?

These resources address the diagnosis or management of juvenile Paget disease and may include treatment providers.

  • Genetic Testing Registry: Hyperphosphatasemia with bone disease (

You might also find information on the diagnosis or management of juvenile Paget disease in Educational resources and Patient support.

General information about the diagnosis ( and management ( of genetic conditions is available in the Handbook. Read more about genetic testing (, particularly the difference between clinical tests and research tests (

To locate a healthcare provider, see How can I find a genetics professional in my area? ( in the Handbook.

Where can I find additional information about juvenile Paget disease?

You may find the following resources about juvenile Paget disease helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for juvenile Paget disease?

  • chronic congenital idiopathic hyperphosphatasemia
  • familial idiopathic hyperphosphatasemia
  • familial osteoectasia
  • hyperostosis corticalis deformans juvenilis
  • hyperphosphatasemia with bone disease
  • hyperphosphatasia, familial idiopathic
  • idiopathic hyperphosphatasia
  • JPD
  • juvenile Paget's disease
  • osteochalasia desmalis familiaris
  • osteoectasia with hyperphosphatasia

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines ( and How are genetic conditions and genes named? ( in the Handbook.

What if I still have specific questions about juvenile Paget disease?

Ask the Genetic and Rare Diseases Information Center (

What glossary definitions help with understanding juvenile Paget disease?

adolescent ; autosomal ; autosomal recessive ; bone remodeling ; cell ; chronic ; congenital ; familial ; gene ; hyperostosis ; idiopathic ; inherited ; joint ; juvenile ; osteoclast ; phosphatase ; plasma ; protein ; recessive ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Chong B, Hegde M, Fawkner M, Simonet S, Cassinelli H, Coker M, Kanis J, Seidel J, Tau C, Tüysüz B, Yüksel B, Love D; International Hyperphosphatasia Collaborative Group. Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype. J Bone Miner Res. 2003 Dec;18(12):2095-104. (
  • Cundy T, Hegde M, Naot D, Chong B, King A, Wallace R, Mulley J, Love DR, Seidel J, Fawkner M, Banovic T, Callon KE, Grey AB, Reid IR, Middleton-Hardie CA, Cornish J. A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. Hum Mol Genet. 2002 Sep 1;11(18):2119-27. (
  • Cundy T. Idiopathic hyperphosphatasia. Semin Musculoskelet Radiol. 2002 Dec;6(4):307-12. Review. (
  • Daroszewska A, Ralston SH. Mechanisms of disease: genetics of Paget's disease of bone and related disorders. Nat Clin Pract Rheumatol. 2006 May;2(5):270-7. Review. (
  • Janssens K, de Vernejoul MC, de Freitas F, Vanhoenacker F, Van Hul W. An intermediate form of juvenile Paget's disease caused by a truncating TNFRSF11B mutation. Bone. 2005 Mar;36(3):542-8. (
  • Lucas GJ, Daroszewska A, Ralston SH. Contribution of genetic factors to the pathogenesis of Paget's disease of bone and related disorders. J Bone Miner Res. 2006 Dec;21 Suppl 2:P31-7. Review. (
  • Ralston SH. Juvenile Paget's disease, familial expansile osteolysis and other genetic osteolytic disorders. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):101-11. doi: 10.1016/j.berh.2007.11.005. Review. (
  • Whyte MP, Obrecht SE, Finnegan PM, Jones JL, Podgornik MN, McAlister WH, Mumm S. Osteoprotegerin deficiency and juvenile Paget's disease. N Engl J Med. 2002 Jul 18;347(3):175-84. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: February 2010
Published: February 8, 2016