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ORPHA:3447

Weaver syndrome

low confidenceDisorder

Also known as: EZH2-related overgrowth syndrome

Publications

45,174

Trials

0

Interventional, condition-specific

Researchers

1,287

Distinct authors in sample

Gene link

EZH2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare PRC-2 complex-related overgrowth spectrum disorder characterized by pre- and post-natal overgrowth, facial dysmorphism (including hypertelorism, large fleshy ears and retrognathia with the appearance of a 'stuck-on' chin with associated horizontal skin crease) that is easily recognizable in early childhood. Majority of the patients present with mild . Additional variable features include macrocephaly, joint laxity, scoliosis, pectus excavatum, hypo- and/or , poor coordination, soft dough skin, clinodactyly, camptodactyly of the fingers and/or toes, umbilical hernia, and a low hoarse cry in infancy. Many clinical features, including facial dysmorphism, attenuate with age. Patients may also have a higher risk of neuroblastoma.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

camptodactyly-overgrowth-unusual facies 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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — EZH2

  2. LiteraturePresent

    45,174 matched papers (35,973 in last 10 years) Source

  3. Phenotype characterisedPresent

    120 HPO annotations (e.g. Accelerated skeletal maturation; Abnormally low-pitched voice; Inguinal hernia) 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 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 (EZH2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

120

Associated phenotypes · MONDO:0010193

  • Accelerated skeletal maturation
  • Abnormally low-pitched voice
  • Inguinal hernia
  • Round face
  • Large hands

Showing 5 of 120 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

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

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?

45,174

45,174 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.

45,174 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).

35,973 in the last 10 years · low confidence

Phrase hits: 541 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,287

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.

  1. 01
    Gibson WT12 papers · 2025

    Department of Medical Genetics, University of British Columbia, Vancouver, Canada. wtgibson@cfri.ubc.ca

    Papers in Europe PMC
  2. 02
    Tatton-Brown K10 papers · 2025

    Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK.

    Papers in Europe PMC
  3. 03
    Weksberg R7 papers · 2024

    Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.

    Papers in Europe PMC
  4. 04
    Choufani S6 papers · 2024

    Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.

    Papers in Europe PMC
  5. 05
    Cole T5 papers · 2019

    Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.

    Papers in Europe PMC
  6. 06
    Li Y5 papers · 2025

    Department of Obstetrics and Gynecology, The First Hospital of Jilin University, Changchun, Jilin, China.

    Papers in Europe PMC
  7. 07
    Matsumoto N5 papers · 2025

    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

    Papers in Europe PMC
  8. 08
    Milani D5 papers · 2025

    Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC
  9. 09
    Badonyi M4 papers · 2025

    MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK. mihaly.badonyi@ed.ac.uk.

    Papers in Europe PMC
  10. 10
    Banka S4 papers · 2024

    Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK; Division of Evolution, Infection & Genomics, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9WL, UK.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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).

Uncertain / not reviewed (2)

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 Weaver 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.

("Weaver syndrome" OR "EZH2-related overgrowth syndrome" OR "camptodactyly-overgrowth-unusual facies syndrome") OR ("EZH2" OR "EZH2 syndrome" OR "EZH2-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Weaver syndrome" OR "EZH2-related overgrowth syndrome" OR "camptodactyly-overgrowth-unusual facies syndrome"

Study-type breakdown: 0 interventional · 0 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (45174) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T23:12:24.605Z