U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Diaphyseal medullary stenosis-bone malignancy syndrome

Diaphyseal medullary stenosis-bone malignancy syndrome

Synonyms
Bone dysplasia with malignant fibrous histiocytoma; Bone dysplasia with medullary fibrosarcoma; Diaphyseal medullary stenosis with malignant fibrous histiocytoma; MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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). [from OMIM]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDMF, DMSFH, DMSMFH, HEL-249, LGMBF, MSAP, c86fus, MTAP
    Summary: methylthioadenosine phosphorylase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.