National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Juvenile Paget disease


Other Names:
JPD; Hyperostosis corticalis deformans juvenilis; Hyperphosphatasia, familial idiopathic; JPD; Hyperostosis corticalis deformans juvenilis; Hyperphosphatasia, familial idiopathic; Hyperphosphatasemia, chronic congenital idiopathic; Paget disease juvenile type; Paget disease of bone 5, juvenile-onset; Hereditary hyperphosphatasia; Hyperostosid corticalis deformans juvenilis; JPG; Juvenile Pagets disease See More
Categories:
This disease is grouped under:
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: 11/3/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
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HPO ID
80%-99% of people have these symptoms
Abnormality of the clavicle
Abnormal collarbone
0000889
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] 		0000164
Bowing of the long bones
Bowed long bones
Bowing of long bones
[ more ] 		0006487
Cranial hyperostosis 0004437
Hyperuricemia
High blood uric acid level
0002149
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Osteoporosis 0000939
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] 		0002757
Rough bone trabeculation 0100670
Short stature
Decreased body height
Small stature
[ more ] 		0004322
30%-79% of people have these symptoms
Abnormality of retinal pigmentation 0007703
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Hypertension 0000822
Optic atrophy 0000648
Pectus carinatum
Pigeon chest
0000768
5%-29% of people have these symptoms
Macular scar 0200056
Melanocytic nevus
Beauty mark
0000995
Motor delay 0001270
Retinopathy
Noninflammatory retina disease
0000488
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] 		0001482
Percent of people who have these symptoms is not available through HPO
Angioid streaks of the fundus 0001102
Ankylosis 0031013
Autosomal recessive inheritance 0000007
Barrel-shaped chest
Barrel chest
0001552
Elevated alkaline phosphatase
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ] 		0003155
Elevated serum acid phosphatase
Acid phosphatase elevated
0003148
Hydroxyprolinemia
High blood hydroxyproline levels
0003260
Hydroxyprolinuria
Elevated urinary hydroxyproline
0003080
Hyperphosphatemia
High blood phosphate levels
0002905
Increased bone mineral density
Increased bone density
0011001
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Muscle weakness
Muscular weakness
0001324
Premature loss of teeth
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ] 		0006480
Progressive
Worsens with time
0003676
Sensorineural hearing impairment 0000407
Thickened calvaria
Increased thickness of skull cap
Thickened skull cap
[ more ] 		0002684
Variable expressivity 0003828
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Juvenile Paget disease. 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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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 Juvenile Paget disease. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Juvenile Paget disease. Genetics Home Reference. February 2010; http://ghr.nlm.nih.gov/condition/juvenile-paget-disease. Accessed 11/3/2015.