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Diaphyseal medullary stenosis-bone malignancy syndrome

Disease 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).


Classification level: Disorder
  • Synonym(s):
    • Bone dysplasia-medullary fibrosarcoma syndrome
    • Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
    • Hardcastle syndrome
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: M89.8
  • OMIM: 112250
  • UMLS: C1300202  C1862177
  • MeSH: C536169
  • GARD: 10072
  • MedDRA: -
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