RARE DISEASERESEARCH ATLAS

ORPHA:77296

Morgagni-Stewart-Morel syndrome

high confidenceDisorder

Also known as: Hyperostosis frontalis interna

Publications

839

71th percentile

Trials

0

Interventional, condition-specific

Researchers

1,006

Distinct authors in sample

Gene link

Readiness

1/6

Stages with a signal

Clinical definition (Orphanet)

A rare cranial characterized by hyperostosis frontalis interna, variably associated with and endocrine disorders (such as obesity, diabetes mellitus, and hirsutism, among others). Compression by calvarial thickening may lead to cerebral atrophy and present with cognitive impairment, neuropsychiatric symptoms, headaches, and . The condition predominantly affects women.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

Hyperostosis Frontalis Interna · hyperostosis frontalis interna

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.”

1/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    839 matched papers (130 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

839

839 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

839 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).

130 in the last 10 years · high confidence · 71th percentile (publications denominator)

Phrase hits: 839 · MeSH hits: 9

Open Europe PMC search

Who's working on it?

1,006

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Hershkovitz I7 papers · 2025

    Cleveland Museum of Natural History, Ohio 44106-1767, USA. anatom2@post.tau.ac.il

    Papers in Europe PMC
  2. 02
    Abbas J5 papers · 2012
    Papers in Europe PMC
  3. 03
    Dar G5 papers · 2012
    Papers in Europe PMC
  4. 04
    May H5 papers · 2012

    Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.

    Papers in Europe PMC
  5. 05
    Peled N5 papers · 2012
    Papers in Europe PMC
  6. 06
    Nikolić S4 papers · 2020

    Institute of Forensic Medicine, 31a Deligradskastr., Belgrade, Serbia. bobanvladislav@yahoo.com

    Papers in Europe PMC
  7. 07
    Bhandari A3 papers · 2025

    Department of Medical Imaging, University of Arizona College of Medicine, 1501 N Campbell Ave, Tucson, Arizona, 85724.

    Papers in Europe PMC
  8. 08
    Bracanovic D3 papers · 2020

    Laboratory for Anthropology, Department of Anatomy, School of Medicine, University of Belgrade, Belgrade, Serbia.

    Papers in Europe PMC
  9. 09
    Cvetković D3 papers · 2020

    Institute of Forensic Medicine, Deligradska Street 31a, Belgrade 11000, Serbia; University of Belgrade, School of Medicine, Belgrade 11000, Serbia.

    Papers in Europe PMC
  10. 10
    Djonic D3 papers · 2020

    Laboratory for Anthropology, Department of Anatomy, School of Medicine, University of Belgrade, Belgrade, Serbia.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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.

"Morgagni-Stewart-Morel syndrome" OR "Hyperostosis frontalis interna"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hyperostosis Frontalis Interna

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

"Morgagni-Stewart-Morel syndrome" OR "Hyperostosis frontalis interna"

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

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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

Ingested 2026-07-27T01:53:08.390Z