ORPHA:2616
3M syndrome
Also known as: 3-M syndrome · Yakut short stature syndrome
Publications
449
74.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,267
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, large head size, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007477
- MeSH:C535314
- UMLS:C1848862
Additional Mondo synonyms (2)
Three M Syndrome · three M 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.”
2/6 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
449 matched papers (282 in last 10 years) Source
- Phenotype characterisedPresent
149 HPO annotations (e.g. Anteverted nares; Short neck; Intrauterine growth retardation) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
149
Associated phenotypes · MONDO:0007477
- Anteverted nares
- Short neck
- Intrauterine growth retardation
- Frontal bossing
- Midface retrusion
Showing 5 of 149 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
449
449 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=3967) is 59.
449 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
282 in the last 10 years · medium confidence · 74.3th percentile (publications denominator)
Phrase hits: 449 · MeSH hits: 0
Who's working on it?
1,267
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.
- 01Cormier-Daire V7 papers · 2023
Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.
Papers in Europe PMC - 02
- 03Dauber A5 papers · 2019
Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Papers in Europe PMC - 04Huang Y5 papers · 2025
Laboratory of Genetic Center, Xiamen Maternal and Child Health Care Hospital, Women and Children's Hospital Affiliated to Xiamen University, Xiamen, Fujian 361003, China. meilibinxm@163.com.
Papers in Europe PMC - 05Yang Y5 papers · 2023
Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China. yying1930@163.com.
Papers in Europe PMC - 06Zhang Y5 papers · 2025
Department of Clinical Laboratory Science, Jinling Hospital, School of Medicine, Nanjing University, 305 East Zhongshan Road, Nanjing, 210002, China.
Papers in Europe PMC - 07Hanson D4 papers · 2015
Department of Endocrinology, Manchester Biomedical Centre, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, Manchester, UK.
Papers in Europe PMC - 08Hwa V4 papers · 2020
Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Papers in Europe PMC - 09Irving M4 papers · 2021
Department of Clinical Genetics, Guy's and St. Thomas' NHS Trust, London, UK.
Papers in Europe PMC - 10Li Y4 papers · 2024
Department of Medical Oncology, Affiliated Hospital of Hebei University, Hebei Key Laboratory of Cancer Radiotherapy and Chemotherapy, Baoding, Hebei, China.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · dropped 0 · fetched 2026-07-29
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (4)
- isrctn·ISRCTN10032417·No longer recruiting·Study of the efficacy of an autologous platelet gel for the treatment of diabetic foot ulcers
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN73608522·No longer recruiting·Randomised controlled clinical trial on timing versus 3D-accuracy of fast-set impression materials
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN67900267·No longer recruiting·A prospective randomized trial investigating lower incisor inclination and mandibular arch dimensional changes of two pre-adjusted edgewise orthodontic bracket systems in non-extraction cases
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN47401844·No longer recruiting·Energy in Balance: an intervention aimed at migrant women with medically unexplained symptoms
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for 3M syndrome — check Associations / patient organisations on that page.
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.
"3M syndrome" OR "3-M syndrome" OR "Yakut short stature syndrome" OR "Three M Syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"3M syndrome" OR "3-M syndrome" OR "Yakut short stature syndrome" OR "Three M Syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T20:42:05.876Z