RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:783

Rubinstein-Taybi syndrome

high confidenceDisorder

Also known as: Broad thumb-hallux syndrome · Broad thumbs-halluces syndrome

Publications

29,721

98.6th percentile

Trials

3

Interventional, condition-specific

Researchers

1,197

Distinct authors in sample

Gene link

CREBBP, EP300

Definitive

Readiness

5/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — CREBBP, EP300

  2. LiteraturePresent

    29,721 matched papers (20,493 in last 10 years) Source

  3. Phenotype characterisedPresent

    609 HPO annotations (e.g. High palate; Hypertelorism; Low-set ears) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

609

Associated phenotypes · MONDO:0019188

  • High palate
  • Hypertelorism
  • Low-set ears
  • Convex nasal ridge
  • Downslanted palpebral fissures

Showing 5 of 609 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

Model associations linked to this Mondo ID

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

1

Drugs / clinical candidates · MONDO_0019188

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

29,721

29,721 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

29,721 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).

20,493 in the last 10 years · high confidence · 98.6th percentile (publications denominator)

Phrase hits: 2,477 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Milani D7 papers · 2025

    Child and Adolescent Neuropsychiatry Service (UONPIA), Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC
  2. 02
    Lacombe D5 papers · 2024

    CHU de Bordeaux, Service de Génétique Médicale, Hôpital Pellegrin, Bordeaux, France.

    Papers in Europe PMC
  3. 03
    Bapat S4 papers · 2026

    National Centre for Cell Science, NCCS Complex, Pune University Complex, Ganeshkhind, Pune, Maharashtra 411007, India.

    Papers in Europe PMC
  4. 04
    Dalabehera 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
  5. 05
    Gervasini C4 papers · 2024

    Department of Medical Genetics, Universita degli Studi di Milano, Milano, Italy.

    Papers in Europe PMC
  6. 06
    Harris J4 papers · 2026

    Kennedy Krieger Institute, Baltimore, MD, USA. harrisjac@kennedykrieger.org.

    Papers in Europe PMC
  7. 07
    Ng R4 papers · 2026

    Kennedy Krieger Institute, Baltimore, MD, USA.

    Papers in Europe PMC
  8. 08
    Prasher 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
  9. 09
    Ramalingam 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
  10. 10
    Sachidanandan 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 11 September 2026 · last trial check 28 July 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

high confidence · 86.7th 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.

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.

Open the complete matched search on ClinicalTrials.gov

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Rubinstein-Taybi syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("CREBBP" OR "CREBBP syndrome" OR "CREBBP-related" OR "EP300" OR "EP300 syndrome" OR "EP300-related")

Run this search on Europe PMC

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"

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 · 1 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

Ingested 2026-07-26T15:21:11.338Z