ORPHA:2995
Baraitser-Winter cerebrofrontofacial syndrome
Publications
298
81.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,534
Distinct authors in sample
Gene link
ACTB
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, joint stiffening, and intellectual deficit of variable severity, often with severe . Fryns-Aftimos syndrome (FA; pachygyria, , , dysmorphism) corresponds to the appearance of Baraitser-Winter cerebrofrontofacial syndrome (BWS) in elder patients.
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:0017579
- UMLS:C1853623
Additional Mondo synonyms (1)
Baraitser-Winter 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 — ACTB
- LiteraturePresent
298 matched papers (247 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 (ACTB).
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?
298
298 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.
298 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).
247 in the last 10 years · medium confidence · 81.8th percentile (publications denominator)
Phrase hits: 298 · MeSH hits: 0
Who's working on it?
1,534
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.
- 01Di Donato N16 papers · 2026
Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus TU Dresden, Dresden, Germany.
Papers in Europe PMC - 02Greve JN13 papers · 2026
Institute for Biophysical Chemistry, Hannover Medical School, Fritz Hartmann Centre for Medical, Hannover, Germany.
Papers in Europe PMC - 03Manstein DJ12 papers · 2026
Institute for Biophysical Chemistry, Hannover Medical School, Hannover, 30625, Germany. Manstein.Dietmar@mh-hannover.de.
Papers in Europe PMC - 04Taft MH8 papers · 2026
Institute for Biophysical Chemistry, Hannover Medical School, Hannover, 30625, Germany.
Papers in Europe PMC - 05Verloes A8 papers · 2026
Department of Genetics, Robert-Debré Hospital, Paris, France.
Papers in Europe PMC - 06Rump A6 papers · 2026
Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus TU Dresden, Dresden, Germany.
Papers in Europe PMC - 07Dobyns WB5 papers · 2016
Division of Genetic Medicine, Department of Pediatrics, University of Washington, and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Wash., USA.
Papers in Europe PMC - 08Drunat S5 papers · 2019
Department of Medical Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School, Paris, France; INSERM U676, Paris, France.
Papers in Europe PMC - 09Marquardt A5 papers · 2026
Institute for Biophysical Chemistry, Hannover Medical School, Fritz Hartmann Centre for Medical, Hannover, Germany.
Papers in Europe PMC - 10Schrock E5 papers · 2026
Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus TU Dresden, Dresden, Germany.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
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.
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.
"Baraitser-Winter cerebrofrontofacial syndrome" OR "Baraitser-Winter syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Baraitser-Winter cerebrofrontofacial syndrome" OR "Baraitser-Winter syndrome" OR "ACTB"
Recall-expansion terms: ACTB
Study-type breakdown: 0 interventional · 1 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
- Publication count (298) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T21:56:49.520Z