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ORPHA:116

Beckwith-Wiedemann syndrome

medium confidenceDisorder

Also known as: BWS · Exomphalos-macroglossia-gigantism syndrome · Wiedemann-Beckwith syndrome

Publications

14,061

96.5th percentile

Trials

2

Interventional, condition-specific

Researchers

1,212

Distinct authors in sample

Gene link

CDKN1C, H19, KCNQ1OT1

Definitive

Readiness

5/6

Stages with a signal

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

exomphalos-macroglossia-gigantism 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 — CDKN1C, H19, KCNQ1OT1, NLRP5, ZNF215

  2. LiteraturePresent

    14,061 matched papers (8,416 in last 10 years) Source

  3. Phenotype characterisedPresent

    118 HPO annotations (e.g. Nevus flammeus; Vesicoureteral reflux; Omphalocele) Source

  4. Animal modelPresent

    3 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

    2 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 (CDKN1C, H19, KCNQ1OT1…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

118

Associated phenotypes · MONDO:0007534

  • Nevus flammeus
  • Vesicoureteral reflux
  • Omphalocele
  • Proptosis
  • Adrenocortical carcinoma

Showing 5 of 118 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

Monarch fetch 2026-07-27

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

14,061

14,061 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.

14,061 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).

8,416 in the last 10 years · medium confidence · 96.5th percentile (publications denominator)

Phrase hits: 5,636 · MeSH hits: 90

Open Europe PMC search

Who's working on it?

1,212

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
    Kalish JM27 papers · 2026

    Division of Human Genetics, Children's Hospital of Philadelphia.

    Papers in Europe PMC
  2. 02
    George AM13 papers · 2026

    Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  3. 03
    Kagami M10 papers · 2026

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

    Papers in Europe PMC
  4. 04
    Mussa A8 papers · 2026

    Department of Public Health and Pediatric Sciences, School of Medicine, University of Torino, Torino, Italy.

    Papers in Europe PMC
  5. 05
    Riccio A8 papers · 2025

    Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", 81100 Caserta, Italy.

    Papers in Europe PMC
  6. 06
    Eggermann T7 papers · 2026

    Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH University Aachen, Pauwelsstr. 3, D-52074 Aachen, Germany.

    Papers in Europe PMC
  7. 07
    Fukami M7 papers · 2026

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

    Papers in Europe PMC
  8. 08
    Cerrato F6 papers · 2025

    Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", 81100 Caserta, Italy.

    Papers in Europe PMC
  9. 09
    Nirgude S6 papers · 2026

    Division of Human Genetics and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.

    Papers in Europe PMC
  10. 10
    Pignata L6 papers · 2025

    Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", 81100 Caserta, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 9 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

medium confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

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

Open the complete matched search on ClinicalTrials.gov

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.

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 2026-07-27

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 Beckwith-Wiedemann 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.

("Beckwith-Wiedemann syndrome" OR "Exomphalos-macroglossia-gigantism syndrome" OR "Wiedemann-Beckwith syndrome") OR (MESH:"Beckwith-Wiedemann Syndrome") OR ("CDKN1C" OR "CDKN1C syndrome" OR "CDKN1C-related" OR "H19 syndrome" OR "H19-related" OR "KCNQ1OT1" OR "KCNQ1OT1 syndrome" OR "KCNQ1OT1-related")

Run this search on Europe PMC

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"

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 · 2 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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

Ingested 2026-07-26T01:45:29.148Z