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Disease Profile

Diaphyseal medullary stenosis with malignant fibrous histiocytoma

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

-

ICD-10

M89.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

DMSMFH; Bone dysplasia with medullary fibrosarcoma; BDMF;

Categories

Congenital and Genetic Diseases; Hereditary Cancer Syndromes; Musculoskeletal Diseases;

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 85182

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).

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

0000978
Myopathy
Muscle tissue disease
0003198
Premature graying of hair
Early graying
Premature graying
Premature greying
Premature hair graying

[ more ]

0002216
Soft skin
0000977
Thin skin
0000963
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Bowing of the legs
Bowed legs
Bowed lower limbs

[ more ]

0002979
Diaphyseal cortical sclerosis
0005045
Fibrosarcoma
0100244
Fractures of the long bones
0003084
Histiocytoma
0012315
Limb muscle weakness
Limb weakness
0003690
Limb-girdle muscle weakness
0003325
Metaphyseal striations
0031367
Osteomyelitis leading to amputation due to slow healing fractures
0005010
Osteopenia
0000938
Osteosarcoma
Bone cell cancer
0002669
Patchy osteosclerosis
Uneven increase in bone density
0005686
Pathologic fracture
Spontaneous fracture
0002756
Presenile cataracts
0007819
Progressive
Worsens with time
0003676
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Stenosis of the medullary cavity of the long bones
0100254

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Diaphyseal medullary stenosis with malignant fibrous histiocytoma. Click on the link to view a sample search on this topic.