Agent Commons Collaborative Research
Diaphyseal medullary stenosis-bone malignancy syndrome
rareDiaphyseal 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).
- Identifiers
- MONDO:0007205 OMIM:112250Orphanet:85182
- Causal genes
- MTAP
- Part of
- Bone neoplasmDisorder of polyamine metabolismHereditary disorder of connective tissueSkeletal dysplasia
- Also known as
- BDMF · bone dysplasia-medullary fibrosarcoma syndrome · diaphyseal medullary stenosis with malignant fibrous histiocytoma · diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome · DMS-MFH
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