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Genetic and Rare Diseases Information Center (GARD)

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Paget disease, juvenile


Other Names for this Disease
  • Hyperostosis corticalis deformans juvenilis
  • Hyperphosphatasemia, chronic congenital idiopathic
  • Hyperphosphatasia, familial idiopathic
  • JPD
  • Juvenile Paget disease
More Names
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Overview


Juvenile Paget disease is a very rare condition that affects bone growth. This condition causes bones to be abnormally large, misshapen, and easily broken (fractured). Signs and symptoms usually appear in infancy or early childhood. As bones grow, they become weaker and more deformed. This condition 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 condition also affects bones of the spine (vertebrae), 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. Juvenile Paget disease is caused by mutations in the TNFRSF11B gene and is inherited in an autosomal recessive fashion.[1]
Last updated: 6/13/2011

References

  1. Juvenile Paget disease. Genetics Home Reference. February 2010; http://ghr.nlm.nih.gov/condition/juvenile-paget-disease. Accessed 6/13/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Paget disease, juvenile. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Paget disease, juvenile. Click on the link to view a sample search on this topic.