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Hyperparathyroidism-jaw tumor syndrome
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.
ORPHA:99880
Classification level: DisorderDetailed information
Professionals
- Clinical practice guidelines
- Deutsch (2016)
- Guidance for genetic testing
- Français (2016, pdf)
- Clinical genetics review
- English (2018)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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