National Organization for Rare Disorders, Inc.
- familial idiopathic hyperphosphatasia
- familial osteoectasia
- hyperostosis corticalis deformans juvenilis
- juvenile Paget's disease
- chronic congenital idiopathic hyperphosphatasemia
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
Bethesda, MD 20892-3456
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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Last Updated: 2/27/2013
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