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ORPHA:85182

Diaphyseal medullary stenosis-bone malignancy syndrome

medium confidenceDisorder

Also known as: Bone dysplasia-medullary fibrosarcoma syndrome · Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome · Hardcastle syndrome

Publications

17

19.9th percentile

Trials

40

Interventional, condition-specific

Researchers

132

Distinct authors in sample

Gene link

MTAP

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare bone /cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

DMS-MFH · Hardcastle's syndrome · bone dysplasia-medullary fibrosarcoma syndrome · diaphyseal medullary stenosis-bone malignancy syndrome · diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — MTAP

  2. LiteraturePresent

    17 matched papers (5 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    40 matched on ClinicalTrials.gov (27 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (MTAP).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

17

17 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

17 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

5 in the last 10 years · medium confidence · 19.9th percentile (publications denominator)

Phrase hits: 17 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

132

Distinct author names in 17 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Martignetti JA4 papers · 2012

    Department of Human Genetics, Mount Sinai School of Medicine, New York,NY 10029, USA. jam@msvax.mssm.edu

    Papers in Europe PMC
  2. 02
    Desnick RJ2 papers · 2000
    Papers in Europe PMC
  3. 03
    Gelb BD2 papers · 2000
    Papers in Europe PMC
  4. 04
    Norton KI2 papers · 1999

    Department of Radiology, Box 1234, Mount Sinai Hospital and Mount Sinai School of Medicine, City University of New York, One Gustave L. Levy Place, New York, NY 10029-6574, USA.

    Papers in Europe PMC
  5. 05
    Zhang Y2 papers · 2023

    Department of Genitourinary Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.

    Papers in Europe PMC
  6. 06
    Abdul Razak AR1 paper · 2020

    Toronto Sarcoma Program at Mount Sinai Hospital, Toronto, Canada.

    Papers in Europe PMC
  7. 07
    Adib E1 paper · 2023

    Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA; Lank Genitourinary Center, Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.

    Papers in Europe PMC
  8. 08
    Ahlquist TC1 paper · 2016

    Department of Molecular Oncology, Institute for Cancer research, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway.

    Papers in Europe PMC
  9. 09
    Al-Ezzi EM1 paper · 2020

    Toronto Sarcoma Program at Mount Sinai Hospital, Toronto, Canada.

    Papers in Europe PMC
  10. 10
    Alaiwi SA1 paper · 2023

    Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA; Lank Genitourinary Center, Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

40

interventional trials for this specific condition

40 interventional trials matched this specific condition name; 27 currently recruiting in our sample.

Data as of 27 July 2026

40 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.6th percentile).

medium confidence · 96.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

40 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Diaphyseal medullary stenosis-bone malignancy syndrome" OR "Bone dysplasia-medullary fibrosarcoma syndrome" OR "Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome" OR "Hardcastle syndrome" OR "DMS-MFH" OR "Hardcastle's syndrome"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Diaphyseal medullary stenosis-bone malignancy syndrome" OR "Bone dysplasia-medullary fibrosarcoma syndrome" OR "Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome" OR "Hardcastle syndrome" OR "DMS-MFH" OR "Hardcastle's syndrome" OR "MTAP"

Recall-expansion terms: MTAP

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 40 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Trial count (40) far exceeds publication count (17) — trial matching may still be loose

Ingested 2026-07-27T02:47:36.065Z