Diaphyseal medullary stenosis-bone malignancy syndrome
Diaphyseal medullary stenosis-bone malignancy syndrome
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).
Also known as bone dysplasia-medullary fibrosarcoma syndrome, diaphyseal medullary stenosis-bone malignancy syndrome, diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome, DMS-MFH, Hardcastle syndrome, Hardcastle's syndrome — per MONDO