Belgian Genetic Tests database
Diaphyseal medullary stenosis-bone malignancy syndrome
| Name: |
Diaphyseal medullary stenosis-bone malignancy syndrome
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| Description: |
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).
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| ORPHAcode: |
85182
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| Synonyms: |
Bone dysplasia-medullary fibrosarcoma syndrome
Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
Hardcastle syndrome
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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