National Organization for Rare Disorders, Inc.
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.
- 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
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NIH/Osteoporosis and Related Bone Diseases National Resource Center
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NIH/National Institute on Deafness and Other Communication Disorders
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Bethesda, MD 20892-3456
Genetic and Rare Diseases (GARD) Information Center
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Gaithersburg, MD 20898-8126
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 2/27/2013
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