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

Juvenile primary osteoporosis

Reviewed January 2013

What is juvenile primary osteoporosis?

Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple fractures in the long bones of the arms and legs, especially in the regions where new bone forms (metaphyses). They also have fractures in the bones that form the spine (vertebrae), which can cause collapse of the affected vertebrae (compressed vertebrae). Multiple fractures can cause bone pain and lead to movement problems.

How common is juvenile primary osteoporosis?

The prevalence of juvenile primary osteoporosis is unknown. Nearly 1 in 10 adults over age 50 have osteoporosis, but the condition is uncommon in children. Osteoporosis can occur at a young age as a feature of other conditions but rarely occurs without other signs and symptoms (primary osteoporosis).

What genes are related to juvenile primary osteoporosis?

Mutations in the LRP5 gene can cause juvenile primary osteoporosis. This gene provides instructions for making a protein that participates in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the LRP5 protein is involved in the regulation of bone mineral density.

LRP5 gene mutations that cause juvenile primary osteoporosis result in an LRP5 protein that cannot transmit signals along the pathway. The resulting reduction in signaling impairs proper bone development, causing decreased bone mineral density and osteoporosis at a young age.

Many people with childhood-onset osteoporosis do not have a mutation in the LRP5 gene. (When its cause is unknown, the condition is often called idiopathic juvenile osteoporosis). It is likely that mutations in other genes that have not been identified are involved in this condition.

Related Gene(s)

Changes in this gene are associated with juvenile primary osteoporosis.

  • LRP5

How do people inherit juvenile primary osteoporosis?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Where can I find information about diagnosis or management of juvenile primary osteoporosis?

These resources address the diagnosis or management of juvenile primary osteoporosis and may include treatment providers.

  • Lucile Packard Children's Hospital at Stanford: Juvenile Osteoporosis (
  • MedlinePlus Encyclopedia: Bone Mineral Density Test (
  • Merck Manual Home Health Edition: Osteoporosis (

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

General information about the diagnosis ( and management ( of genetic conditions is available in the Handbook.

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 primary osteoporosis?

You may find the following resources about juvenile primary osteoporosis 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 primary osteoporosis?

  • childhood-onset primary osteoporosis
  • idiopathic juvenile osteoporosis

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 primary osteoporosis?

Ask the Genetic and Rare Diseases Information Center (

What glossary definitions help with understanding juvenile primary osteoporosis?

autosomal ; autosomal dominant ; bone mineral density ; calcium ; cell ; gene ; idiopathic ; inherited ; juvenile ; mineral ; mutation ; osteoporosis ; prevalence ; protein

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


  • Hartikka H, Mäkitie O, Männikkö M, Doria AS, Daneman A, Cole WG, Ala-Kokko L, Sochett EB. Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children. J Bone Miner Res. 2005 May;20(5):783-9. Epub 2005 Jan 4. (
  • Korvala J, Jüppner H, Mäkitie O, Sochett E, Schnabel D, Mora S, Bartels CF, Warman ML, Deraska D, Cole WG, Hartikka H, Ala-Kokko L, Männikkö M. Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity. BMC Med Genet. 2012 Apr 10;13:26. doi: 10.1186/1471-2350-13-26. (
  • Rauch F, Travers R, Norman ME, Taylor A, Parfitt AM, Glorieux FH. The bone formation defect in idiopathic juvenile osteoporosis is surface-specific. Bone. 2002 Jul;31(1):85-9. (
  • Zhang C, Liu Z, Klein GL. Overview of pediatric bone problems and related osteoporosis. J Musculoskelet Neuronal Interact. 2012 Sep;12(3):174-82. Review. (


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: January 2013
Published: February 8, 2016