/diaphyseal medullary stenosis-bone malignancy syndrome

diaphyseal medullary stenosis-bone malignancy syndrome

Rare Disease

MONDO:0007205

Also Known As

DMS-MFHHardcastle syndromeHardcastle's syndromebone dysplasia-medullary fibrosarcoma syndromediaphyseal medullary stenosis-bone malignancy syndromediaphyseal medullary stenosis-malignant fibrous histiocytoma syndromeBDMFDMSMFHbone dysplasia with malignant fibrous histiocytomabone dysplasia with medullary fibrosarcomadiaphyseal medullary stenosis with malignant fibrous histiocytomamyopathy, limb-girdle, with bone fragility

Definition

Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).