Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Synonyms: Hypercalcemic tumoral calcinosis
A rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses usually adjacent to large joints such as hips shoulders and elbows. It can occur in the setting of hyperphosphatemia or normophosphatemia depending on the type of gene mutation involved.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome?
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