ORPHA:783
Rubinstein-Taybi syndrome
Also known as: Broad thumb-hallux syndrome · Broad thumbs-halluces syndrome
Publications
2,477
93.5th percentile
Trials
3
Interventional, condition-specific
Researchers
1,197
Distinct authors in sample
Gene link
CREBBP, EP300
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic syndrome characterized by anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, and behavioral characteristics.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019188
- MeSH:D012415
- UMLS:C0035934
- NCIT:C75466
Additional Mondo synonyms (1)
Rubinstein-Taybi 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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — CREBBP, EP300
- LiteraturePresent
2,477 matched papers (1,161 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 trialPresent
3 matched on ClinicalTrials.gov (1 recruiting in sample)
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 (CREBBP, EP300).
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?
2,477
2,477 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.
2,477 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).
1,161 in the last 10 years · high confidence · 93.5th percentile (publications denominator)
Phrase hits: 2,477 · MeSH hits: 0
Who's working on it?
1,197
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Milani D7 papers · 2025
Child and Adolescent Neuropsychiatry Service (UONPIA), Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Papers in Europe PMC - 02Lacombe D5 papers · 2024
CHU de Bordeaux, Service de Génétique Médicale, Hôpital Pellegrin, Bordeaux, France.
Papers in Europe PMC - 03Bapat S4 papers · 2026
National Centre for Cell Science, NCCS Complex, Pune University Complex, Ganeshkhind, Pune, Maharashtra 411007, India.
Papers in Europe PMC - 04Dalabehera S4 papers · 2026
CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi 110025, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
Papers in Europe PMC - 05Gervasini C4 papers · 2024
Department of Medical Genetics, Universita degli Studi di Milano, Milano, Italy.
Papers in Europe PMC - 06Harris J4 papers · 2026
Kennedy Krieger Institute, Baltimore, MD, USA. harrisjac@kennedykrieger.org.
Papers in Europe PMC - 07
- 08Prasher B4 papers · 2026
CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi 110025, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
Papers in Europe PMC - 09Ramalingam S4 papers · 2026
CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi 110025, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
Papers in Europe PMC - 10Sachidanandan C4 papers · 2026
CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi 110025, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India. Electronic address: chetana@igib.res.in.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
high confidence · 85.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06740162·RECRUITING·Physical Activity and Community EmPOWERment Project
Conditions: Intellectual Disability · Neurodevelopmental Disorders · Autism Spectrum Disorder · Down Syndrome·Matched via name phrase
Observational and natural-history studies
2 observational studies match 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.
Recruiting or not-yet-recruiting
- NCT01238250·RECRUITING·Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Conditions: 16P11.2 Deletion Syndrome · 16p11.2 Duplications · 1Q21.1 Deletion · 1Q21.1 Microduplication Syndrome (Disorder)·Matched via name phrase
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.
"Rubinstein-Taybi syndrome" OR "Broad thumb-hallux syndrome" OR "Broad thumbs-halluces syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Rubinstein-Taybi syndrome" OR "Broad thumb-hallux syndrome" OR "Broad thumbs-halluces syndrome" OR "CREBBP" OR "EP300"
Recall-expansion terms: CREBBP, EP300
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 3 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-26T15:21:11.338Z