diaphyseal medullary stenosis-bone malignancy syndrome
Findings
No curated finding names diaphyseal medullary stenosis-bone malignancy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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).
Definition from the Mondo Disease Ontology (MONDO:0007205), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MTAPHGNC:7413
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2022
- Moderate · ClinGen · Autosomal dominant · 2021
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2025
Where it sits
Other names
5 names
Resolves to: diaphyseal medullary stenosis-bone malignancy syndrome
- Also called
- bone dysplasia-medullary fibrosarcoma syndromediaphyseal medullary stenosis-malignant fibrous histiocytoma syndromeDMS-MFHHardcastle syndromeHardcastle's syndrome