ORPHA:85191
Singleton-Merten dysplasia
Also known as: Singleton-Merten syndrome
Publications
296
82.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,175
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Singleton-Merten is characterized by dental , calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008429
- MeSH:C537343
- UMLS:C0432254
Additional Mondo synonyms (3)
Merten-Singleton syndrome · Singleton Merten syndrome · singleton Merten 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.”
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
296 matched papers (258 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
296
296 papers have ever been published on this condition (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.
296 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).
258 in the last 10 years · medium confidence · 82.4th percentile (publications denominator)
Phrase hits: 296 · MeSH hits: 11
Who's working on it?
1,175
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.
- 01Crow YJ12 papers · 2024
INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France.
Papers in Europe PMC - 02Rutsch F9 papers · 2023
Department of General Pediatrics, Muenster University Children's Hospital, D-48149 Muenster, Germany.
Papers in Europe PMC - 03Hur S7 papers · 2022
Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts.
Papers in Europe PMC - 04Kato H6 papers · 2025
Laboratory of Molecular Genetics, Institute for Virus Research, Kyoto University , Kyoto, Japan .
Papers in Europe PMC - 05Rice GI6 papers · 2020
Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.
Papers in Europe PMC - 06Buers I5 papers · 2023
Department of General Pediatrics, Muenster University Children's Hospital, D-48149 Muenster, Germany.
Papers in Europe PMC - 07Fujita T5 papers · 2022
Laboratory of Molecular Genetics, Institute for Virus Research, Kyoto University , Kyoto, Japan .
Papers in Europe PMC - 08MacDougall M5 papers · 2017
Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address: macdougall@uab.edu.
Papers in Europe PMC - 09Modis Y5 papers · 2025
Molecular Immunity Unit, Department of Medicine, University of Cambridge, MRC Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge Biomedical Campus, Cambridge, CB2 0QH, UK. ymodis@mrc-lmb.cam.ac.uk.
Papers in Europe PMC - 10Nitschke Y5 papers · 2023
Department of General Pediatrics, Muenster University Children's Hospital, D-48149 Muenster, Germany.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
medium 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.
Observational and natural-history studies
1 observational study matches 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.
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 2026-07-26This 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.
"Singleton-Merten dysplasia" OR "Singleton-Merten syndrome" OR "Merten-Singleton syndrome" OR "Singleton Merten syndrome"
MeSH descriptor terms unioned into the query: Singleton Merten syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Singleton-Merten dysplasia" OR "Singleton-Merten syndrome" OR "Merten-Singleton syndrome" OR "Singleton Merten syndrome"
Study-type breakdown: 0 interventional · 1 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
- Publication count (296) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T02:48:16.785Z