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Hereditary Hyperphosphatasia

Abstract

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NORD is very grateful to Prof. Tim Cundy, Department of Medicine, Faculty of Medical & Health Sciences, University of Auckland, New Zealand, for assistance in the preparation of this report.

Synonyms of Hereditary Hyperphosphatasia

chronic congenital idiopathic hyperphosphatasemia
familial idiopathic hyperphosphatasia
familial osteoectasia
hyperostosis corticalis deformans juvenilis
juvenile Paget's disease

Disorder Subdivisions

No subdivisions found.

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, 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.

Organizations related to Hereditary Hyperphosphatasia

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