ORPHA:897
Waardenburg-Shah syndrome
Also known as: Shah-Waardenburg syndrome · WS4 · Waardenburg syndrome type 4 · Waardenburg-Hirschsprung syndrome
Publications
579
Trials
0
Interventional, condition-specific
Researchers
1,166
Distinct authors in sample
Gene link
EDN3
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).
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:0019518
- NCIT:C124842
Additional Mondo synonyms (1)
Waardenburg syndrome type IV
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
Strong — EDN3
- LiteraturePresent
579 matched papers (256 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 (EDN3).
GenCC classification: Strong.
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?
579
579 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
579 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).
256 in the last 10 years · low confidence
Phrase hits: 579 · MeSH hits: 0
Who's working on it?
1,166
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.
- 01Pingault V5 papers · 2025
Département de Génétique, AP-HP, Hôpital Henri Mondor, Créteil, France.
Papers in Europe PMC - 02Bondurand N4 papers · 2022
INSERM, U955, Equipe11, Hôpital Henri Mondor, Créteil, France. nadege.bondurand@inserm.fr
Papers in Europe PMC - 03Makita T4 papers · 2025
Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, United States.
Papers in Europe PMC - 04Sham MH4 papers · 2013
Department of Biochemistry, University of Hong Kong, Pokfulam, Hong Kong, China.
Papers in Europe PMC - 05Sucov HM4 papers · 2025
Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, United States.
Papers in Europe PMC - 06Tam PK4 papers · 2021
Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Papers in Europe PMC - 07Tan J4 papers · 2025
Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, United States.
Papers in Europe PMC - 08Wang Y4 papers · 2023
Department of Otolaryngology - Head and Neck Surgery, Taizhou People's Hospital, The Fifth Affiliated Hospital of Nantong University, Taizhou, Jiangsu Province, China.
Papers in Europe PMC - 09Borrego S3 papers · 2017
2 Department of Genetics, Reproduction and Fetal Medicine, University Hospital Virgen del Rocío, Seville, Spain.
Papers in Europe PMC - 10Chai Y3 papers · 2023
Department of Otolaryngology - Head and Neck Surgery, The Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
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. 2 observational studies 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.
low 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
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.
None of the matched observational studies is currently listed as recruiting.
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.
"Waardenburg-Shah syndrome" OR "Shah-Waardenburg syndrome" OR "Waardenburg syndrome type 4" OR "Waardenburg-Hirschsprung syndrome" OR "Waardenburg syndrome type IV"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Waardenburg-Shah syndrome" OR "Shah-Waardenburg syndrome" OR "Waardenburg syndrome type 4" OR "Waardenburg-Hirschsprung syndrome" OR "Waardenburg syndrome type IV" OR "EDN3" OR "Waardenburg syndrome"
Recall-expansion terms: EDN3, Waardenburg syndrome
Study-type breakdown: 0 interventional · 2 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
Synonyms dropped by stoplist: WS4
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
- Publication count (579) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T15:49:02.508Z