Orphanet: Hyperparathyroidism jaw tumor syndrome

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Disease definition

A rare genetic disease characterized by synchronous or metachronous occurrence of primary hyperparathyroidism and ossifying fibroma of the maxilla and/or mandible, associated with an increased risk of parathyroid carcinoma. Occurrence of renal cysts or tumors, multiple uterine polyps, and thyroid tumors has also been reported.

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Hyperparathyroidism-jaw tumor syndrome

ORPHA:99880

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