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National Organization for Rare Disorders, Inc.
- Chronic Congenital Idiopathic Hyperphosphatasemia
- familial idiopathic hyperphosphatasia
- familial osteoectasia
- hyperostosis corticalis deformans juvenilis
- juvenile Paget's disease
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, fractures of affected bones, and muscle weakness. Because the biochemical and radiographic findings of hereditary hyperphosphatasia are similar to those of adult Paget's disease, a focal 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.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
NIH/Osteoporosis and Related Bone Diseases National Resource Center
2 AMS Circle
Bethesda, MD 20892-3676
NIH/National Institute on Deafness and Other Communication Disorders
31 Center Drive, MSC 2320
Communication Avenue. Bethesda, MD 20892-3456
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, 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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For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 9/10/2010
Copyright 2006, 2010 National Organization for Rare Disorders, Inc.