Hereditary Hyperphosphatasia

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Hereditary Hyperphosphatasia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Chronic Congenital Idiopathic Hyperphosphatasemia
  • Familial Idiopathic Hyperphosphatasia
  • Familial Osteoectasia
  • Hyperostosis Corticalis Deformans Juvenilis
  • Juvenile Paget's Disease
  • JPG

Disorder Subdivisions

  • None

General Discussion

Hereditary hyperphosphatasia is a rare genetic bone disorder (osteopathy) that becomes apparent during infancy or early childhood. Affected individuals develop progressive skeletal malformations especially in the long bones of the arms and legs. Skeletal malformations in the legs may cause problems walking and may eventually result in short stature. Additional symptoms include pain, fever, fractures of affected bones, and muscle weakness. Because the biochemical and radiographic findings of hereditary hyperphosphatasia are similar to those of Paget's disease, a progressive skeletal disorder of abnormal bone destruction and reformation, the disorder is sometimes referred to as juvenile Paget's disease. However, despite these similarities, the two disorders are distinct. Hereditary hyperphosphatasia is inherited as an autosomal recessive trait.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

NIH/National Institute on Deafness and Other Communication Disorders (Balance)
National Temporal Bone, Hearing
and Balance Pathology Resource Registry
Massachusetts Eye & Ear Infirmary
243 Charles Street
Boston, MA 02114-3096
Fax: (617)573-3838
Tel: (800)822-1327
TDD: (888)561-3277
Email: TBRegistry@meei.harvard.edu
Internet: http://www.tbregistry.org

NIH/Osteoporosis and Related Bone Diseases - National Resource Center
2 AMS Circle
Bethesda, MD 20892-3676
USA
Tel: (202)223-0344
Fax: (202)293-2356
Tel: (800)624-2663
TDD: (202)466-4315
Email: niamsboneinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/Health_Info/Bone/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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