ORPHA:2804
W syndrome
Also known as: Pallister-W syndrome
Publications
131
35.5th percentile
Trials
0
Interventional, condition-specific
Researchers
478
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome characterized by moderate to severe , neurologic signs and symptoms (such as , spasticity, strabismus), characteristic facial features (including broad forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft, and prominent mandible), and acne scars. Hearing impairment, pseudo-bulbar palsy, growth retardation, and skeletal anomalies (camptodactyly, clinodactyly, bilateral cubitus valgus, pes cavus/planus) have also been described.
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:0010708
- MeSH:C538106
- OMIM:311450
- UMLS:C0796110
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
131 matched papers (19 in last 10 years) Source
- Phenotype characterisedPresent
25 HPO annotations (e.g. Acne; Alternating esotropia; Spasticity) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
25
Associated phenotypes · MONDO:0010708
- Acne
- Alternating esotropia
- Spasticity
- Hypoplasia of the ulna
- Elbow dislocation
Showing 5 of 25 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
131
131 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=3967) is 59.
131 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).
19 in the last 10 years · medium confidence · 35.5th percentile (publications denominator)
Phrase hits: 131 · MeSH hits: 0
Who's working on it?
478
Distinct author names in 131 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.
- 01Cagán S5 papers · 1987Papers in Europe PMC
- 02Cagánová A3 papers · 1971Papers in Europe PMC
- 03Iwa T3 papers · 1983Papers in Europe PMC
- 04Magara T3 papers · 1983Papers in Europe PMC
- 05Medrano GA3 papers · 1989Papers in Europe PMC
- 06Nakajima T3 papers · 2025
Department of Cardiovascular Medicine Dokkyo Medical University Mibu Tochigi Japan.
Papers in Europe PMC - 07Cárdenas M2 papers · 1976Papers in Europe PMC
- 08Coltorti F2 papers · 1983Papers in Europe PMC
- 09Condorelli M2 papers · 1983Papers in Europe PMC
- 10Critelli G2 papers · 1983Papers 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.
medium 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 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · 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 (40)
- isrctn·ISRCTN16846898·No longer recruiting·The effect of local anaesthetic and adrenaline injection on pain relief after a total hip replacement
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN13720638·Recruiting·Safety and tolerability of APL-3007 administered as a single dose in addition to background therapy with a C5 inhibitor in adults with paroxysmal nocturnal hemoglobinuria
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN15332421·No longer recruiting·The influence of a prehabilitation on the health of lung cancer patients
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN10221007·No longer recruiting·A study to compare how the body takes in and gets rid of sefaxersen when given by an injection device or a regular syringe in healthy adults
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN38725877·No longer recruiting·Blood flow control to the brain throughout a resistance training intervention in women
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN78284158·No longer recruiting·Heated intraperitoneal chemotherapy for the treatment of primary ovarian cancer
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN11493328·No longer recruiting·A study to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of BCX10013 in healthy participants
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN16484644·No longer recruiting·The effects of dry needling on patients with muscle pain
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN16463547·Recruiting·CRISTAL-APC - a trial of chemokine receptor inhibition for patients with pancreatic cancer
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN16256551·No longer recruiting·Effects of probiotic supplementation on gut health, food tolerance and athletic performance of non-elite endurance athletes
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN29801527·No longer recruiting·A study to characterize nicotine delivery of the JUUL2 electronic nicotine delivery system in adults as compared to a commercially available e-cigarette and combustible cigarette
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN55168173·No longer recruiting·Testing a potential new treatment for patients with severe alcohol-associated hepatitis called SZN-043
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN18278231·Recruiting·The PRECISE trial – Pain RElief Combination Intervention StratEgies
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN17704876·No longer recruiting·The beneficial effect on sleep function of a food supplement based on melatonin, Withania somnifera (L.) Dunal, L-ornithine, magnesium and Crocus sativus L.
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN79102999·No longer recruiting·A Phase III study of sepiapterin versus sapropterin in participants with phenylketonuria ≥2 years of age
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN36132797·No longer recruiting·Sleep position device versus continuous positive airway pressure in central sleep apnea
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN14430213·No longer recruiting·CAR T cells to fight acute myeloid leukaemia
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN13559330·No longer recruiting·To test the efficacy, safety, and immunogenicity of the influenza virus vaccines (modRNA) in a human influenza B challenge model in healthy adult participants
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN20833186·No longer recruiting·Comparative effectiveness of various treatment methods of masticatory myofascial pain
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN11774433·No longer recruiting·PANACHE: A Pilot randomised trial comparing two forms of Absorbable versus Non-Absorbable sutures for Carpal tunnel Hand surgEry
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN56133161·No longer recruiting·The use of a laser and pilocarpine in improving saliva secretion in patients with head and neck cancer who have undergone radiochemotherapy
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN36985527·No longer recruiting·A long-term extension study of ustekinumab in pediatric participants with different medical conditions
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN60504239·No longer recruiting·Study on nicotine uptake in smokers using electronic nicotine delivery systems compared to combustible cigarette
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN39200026·No longer recruiting·A study to evaluate the effects of various degrees of reduced kidney function on how the study drug (RO7223280) is broken down and eliminated from the body
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN85177142·No longer recruiting·Virtual reality-based exercise in elderly people, people with Alzheimer's disease and people with schizophrenia
skipped — LLM skipped (--skip-llm)
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 W syndrome — check Associations / patient organisations on that page.
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.
"W syndrome" OR "Pallister-W syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"W syndrome" OR "Pallister-W 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
Ingested 2026-07-26T21:15:46.567Z