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Stenosis of the medullary cavity of the long bones

MedGen UID:
Concept ID:
Disease or Syndrome
HPO: HP:0100254

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVStenosis of the medullary cavity of the long bones

Conditions with this feature

Diaphyseal medullary stenosis-bone malignancy syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Diaphyseal medullary stenosis with malignant fibrous histiocytoma is an autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. In 2 families, affected individuals also showed a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma. Thus, the disorder may be considered a tumor predisposition syndrome (summary by Camacho-Vanegas et al., 2012).

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