ORPHA:659463
Imagawa-Matsumoto syndrome
Also known as: SUZ12-related overgrowth syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
39
49.1th percentile
Trials
0
Interventional, condition-specific
Researchers
353
Distinct authors in sample
Gene link
SUZ12
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare PRC-2 complex-related overgrowth spectrum disorder characterized by generalized pre- and post-natal overgrowth, features (including macrocephaly, prominent forehead, round face, hypertelorism, down-slanting palpebral fissures, and low and broad nasal bridge), , scoliosis, and excessive loose skin. While these clinical features are shared with other diseases-Weaver syndrome and Cohen-Gibson syndrome- in the spectrum), they are less prevalent. Retrognathia, hoarse/low-pitched cry and a low nasal bridge are usually absent.
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:0032916
- OMIM:618786
- UMLS:C5394073
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — SUZ12
- LiteraturePresent
39 matched papers (39 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?
Yes — we know a specific gene responsible (SUZ12).
GenCC classification: Definitive.
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?
39
39 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.
39 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).
39 in the last 10 years · high confidence · 49.1th percentile (publications denominator)
Phrase hits: 39 · MeSH hits: 0
Who's working on it?
353
Distinct author names in 39 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.
- 01Gibson WT4 papers · 2025
British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Papers in Europe PMC - 02Boukas L3 papers · 2024
Department of Pediatrics, Children's National Hospital, Washington, DC 20010, USA.
Papers in Europe PMC - 03Davidovich C3 papers · 2025
Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, VIC, Australia
Papers in Europe PMC - 04Fahrner JA3 papers · 2024
Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Papers in Europe PMC - 05Hansen KD3 papers · 2024
Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA; khansen@jhsph.edu hbjorns1@jhmi.edu.
Papers in Europe PMC - 06Imagawa E3 papers · 2024
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan.
Papers in Europe PMC - 07Lui JC3 papers · 2024
Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, and.
Papers in Europe PMC - 08Matsumoto N3 papers · 2024
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan.
Papers in Europe PMC - 09Badonyi M2 papers · 2025
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK
Papers in Europe PMC - 10Baron J2 papers · 2024
Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, and.
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 2026-07-26This 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.
"Imagawa-Matsumoto syndrome" OR "SUZ12-related overgrowth syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Imagawa-Matsumoto syndrome" OR "SUZ12-related overgrowth syndrome" OR "SUZ12"
Recall-expansion terms: SUZ12
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
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 2026-07-27T20:06:03.019Z