Hereditary hypophosphatemic rickets with hypercalciuria

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Hereditary hypophosphatemic rickets with hypercalciuria

Synonyms: HHRH

A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth short stature skeletal deformities muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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