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Diseases

Genetic and Rare Diseases Information Center (GARD)

Childhood hypophosphatasia


Other Names for this Disease
  • Childhood-onset hypophosphatasia
  • Childhood-onset phosphoethanolaminuria
  • Childhood-onset Rathburn disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Childhood hypophosphatasia is a form of hypophosphatasia, a rare condition that affects the bones. Childhood hypophosphatasia, specifically, is generally diagnosed when the condition develops after six months of age but before adulthood. Signs and symptoms vary but may include delayed motor milestones; low bone mineral density for age; early loss of baby teeth (before age 5); bone and joint pain; short stature; a waddling gait; skeletal malformations; and/or unexplained broken bones. The forms of hypophosphatasia that develop during childhood are generally more mild than those that appear in infancy. Childhood hypophosphatasia is caused by changes (mutations) in the ALPL gene and can be inherited in an autosomal dominant or autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person. Recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone symptoms in people with childhood hypophosphatasia and has been approved by the FDA.[1][2][3]
Last updated: 3/22/2016

References

  1. Hypophosphatasia. NORD. 2014; http://rarediseases.org/rare-diseases/hypophosphatasia/.
  2. Horacio B Plotkin, MD, FAAP. Hypophosphatasia. Medscape Reference. December 2015; http://emedicine.medscape.com/article/945375-overview.
  3. Etienne Mornet, PhD and Mark E Nunes, MD. Hypophosphatasia. GeneReviews. February 2016; http://www.ncbi.nlm.nih.gov/books/NBK1150/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Childhood hypophosphatasia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Childhood hypophosphatasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Childhood-onset hypophosphatasia
  • Childhood-onset phosphoethanolaminuria
  • Childhood-onset Rathburn disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.