ORPHA:116
Beckwith-Wiedemann syndrome
Also known as: BWS · Exomphalos-macroglossia-gigantism syndrome · Wiedemann-Beckwith syndrome
Clinical definition (Orphanet)
A rare imprinting disorder characterized by pre- and postnatal overgrowth, macroglossia, abdominal wall defects and an elevated tumor risk. The clinical expression is variable, ranging from lateralised overgrowth to a pronounced clinical presentation.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Is anyone studying this?
5,636
5,636 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=183) is 38.
5,636 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
2,655 in the last 10 years · medium confidence · 97th percentile (publications denominator)
Is a treatment being tested?
2
trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 26 July 2026
2 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 74.7th percentile).
medium confidence · 74.7th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (CDKN1C, H19, KCNQ1OT1…).
GenCC classification: Definitive.
Who's working on it?
1,150
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.
- 01
- 02George AM15 papers · 2026
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 03Taylor JA11 papers · 2026
From the Divisions of Plastic, Reconstructive, and Oral Surgery.
Papers in Europe PMC - 04Mussa A9 papers · 2026
Department of Public Health and Pediatric Sciences, University of Turin, Torino, Italy alessandro.mussa@unito.it nicoletta.resta@uniba.it.
Papers in Europe PMC - 05Romeo DJ8 papers · 2026
Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 06Wu M8 papers · 2026
From the Divisions of Plastic, Reconstructive, and Oral Surgery.
Papers in Europe PMC - 07Ng JJ7 papers · 2026
From the Divisions of Plastic, Reconstructive, and Oral Surgery.
Papers in Europe PMC - 08Nirgude S7 papers · 2026
Division of Human Genetics and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Papers in Europe PMC - 09Viswanathan A7 papers · 2026
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 10Banala M5 papers · 2025
Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, Philadelphia, PA.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
Observational and natural-history studies
3 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
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
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 below but are not added to the query string.
"Beckwith-Wiedemann syndrome" OR "Exomphalos-macroglossia-gigantism syndrome" OR "Wiedemann-Beckwith syndrome"
MeSH descriptor terms unioned into the query: Beckwith-Wiedemann Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Beckwith-Wiedemann syndrome" OR "Exomphalos-macroglossia-gigantism syndrome" OR "Wiedemann-Beckwith syndrome" OR "CDKN1C" OR "H19" OR "KCNQ1OT1" OR "NLRP5" OR "ZNF215"
Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 3 observational · 1 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:D001506 OMIM:130650 UMLS:C0004903 NCIT:C34415
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: BWS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus