ORPHA:404443
Tatton-Brown-Rahman syndrome
Also known as: DNMT3A-related overgrowth syndrome · Tatton-Brown-Rahman overgrowth syndrome
Publications
277
83.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,698
Distinct authors in sample
Gene link
DNMT3A
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate , joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, , behavioral and psychiatric problems are common. Other clinical features may involve , cryptorchidism and cardiovascular diseases (including heart disease and aortic root dilatation).
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:0014382
- OMIM:615879
- UMLS:C4014545
Additional Mondo synonyms (2)
Tatton Brown Rahman Syndrome · tall stature-intellectual disability-facial dysmorphism 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
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 — DNMT3A
- LiteraturePresent
277 matched papers (273 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 (DNMT3A).
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?
277
277 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.
277 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).
273 in the last 10 years · medium confidence · 83.4th percentile (publications denominator)
Phrase hits: 277 · MeSH hits: 0
Who's working on it?
1,698
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.
- 01Sadikovic B19 papers · 2026
Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.
Papers in Europe PMC - 02Kerkhof J12 papers · 2026
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 03McConkey H10 papers · 2025
Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.
Papers in Europe PMC - 04Levy MA9 papers · 2026
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 05Tatton-Brown K9 papers · 2025
St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK; St George's, University of London, London SW17 0RE, UK; Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK.
Papers in Europe PMC - 06Haghshenas S7 papers · 2024
Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.
Papers in Europe PMC - 07Goodell MA6 papers · 2026
Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA. goodell@bcm.edu.
Papers in Europe PMC - 08Temple IK6 papers · 2025
Faculty of Medicine, University of Southampton and the Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK.
Papers in Europe PMC - 09Alders M5 papers · 2025
Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands. m.alders@amsterdamumc.nl.
Papers in Europe PMC - 10Baralle D5 papers · 2026
Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, United Kingdom.
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.
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.
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.
"Tatton-Brown-Rahman syndrome" OR "DNMT3A-related overgrowth syndrome" OR "Tatton-Brown-Rahman overgrowth syndrome" OR "Tatton Brown Rahman Syndrome" OR "tall stature-intellectual disability-facial dysmorphism syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Tatton-Brown-Rahman syndrome" OR "DNMT3A-related overgrowth syndrome" OR "Tatton-Brown-Rahman overgrowth syndrome" OR "Tatton Brown Rahman Syndrome" OR "tall stature-intellectual disability-facial dysmorphism 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (277) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T15:33:24.565Z