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ORPHA:3440

Waardenburg syndrome

medium confidenceDisorder

Publications

82,094

99.5th percentile

Trials

0

Interventional, condition-specific

Researchers

1,138

Distinct authors in sample

Gene link

KITLG, MITF, PAX3

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic multiple anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term ''Waardenburg syndrome'' (WS).

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

Waardenburg's 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 — KITLG, MITF, PAX3, SNAI2

  2. LiteraturePresent

    82,094 matched papers (46,001 in last 10 years) Source

  3. Phenotype characterisedPresent

    280 HPO annotations (e.g. Abnormality of the nose; Underdeveloped nasal alae; Wide nasal bridge) Source

  4. Animal modelPresent

    32 genotype models (Mus musculus, Danio rerio) 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 (KITLG, MITF, PAX3…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

280

Associated phenotypes · MONDO:0018094

  • Abnormality of the nose
  • Underdeveloped nasal alae
  • Wide nasal bridge
  • Abnormality of vision
  • Synophrys

Showing 5 of 280 — open Monarch for the full list.

Animal models (Monarch / Alliance)

32

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?

82,094

82,094 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.

82,094 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).

46,001 in the last 10 years · medium confidence · 99.5th percentile (publications denominator)

Phrase hits: 3,540 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,138

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
    Li X6 papers · 2025

    College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, Key Lab of Hearing Impairment Science of Ministry of Education, Key Lab of Hearing Impairment Prevention and Treatment of Beijing, China; Department of Otorhinolaryngology Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing Key Laboratory for Pediatric Diseases of Otolaryngology-Head and Neck Surgery, Beijing, China.

    Papers in Europe PMC
  2. 02
    Chen Y5 papers · 2025

    Department of Endocrinology, Union Hospital, Huazhong University of Science and Technology, Wuhan 430000, China.

    Papers in Europe PMC
  3. 03
    Yang Y5 papers · 2026

    National Clinical Research Center for Otorhinolaryngologic Disease, Chinese PLA General Hospital, No.6, Fucheng Road, Haidian District, Beijing 100048, China.

    Papers in Europe PMC
  4. 04
    Ma J4 papers · 2025

    Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.

    Papers in Europe PMC
  5. 05
    Pingault V4 papers · 2025

    Université de Paris, INSERM, Imagine Institute, UMR 1163, Laboratory of Embryology and Genetics of Human Malformation, F-75015 Paris, France; Fédération de Génétique, Service de Génétique des Maladies rares, AP-HP, Hôpital Necker-Enfants-Malades, 149 rue de Sèvres, F-75015 Paris, France.

    Papers in Europe PMC
  6. 06
    Wang X4 papers · 2025

    Department of Otolaryngology Head and Neck Surgery, Harvard Medical School, Boston, Massachusetts, USA.

    Papers in Europe PMC
  7. 07
    Wang Y4 papers · 2025

    Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  8. 08
    Zhang Y4 papers · 2025

    Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  9. 09
    Dai P3 papers · 2023

    College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, Key Lab of Hearing Impairment Science of Ministry of Education, Key Lab of Hearing Impairment Prevention and Treatment of Beijing, China. Electronic address: daipu301@vip.sina.com.

    Papers in Europe PMC
  10. 10
    Feng Y3 papers · 2025

    Department of Otorhinolaryngology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, 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 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.

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.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-29

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).

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 Waardenburg 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.

("Waardenburg syndrome" OR "Waardenburg's syndrome") OR ("KITLG" OR "KITLG syndrome" OR "KITLG-related" OR "MITF" OR "MITF syndrome" OR "MITF-related" OR "PAX3" OR "PAX3 syndrome" OR "PAX3-related")

Run this search on Europe PMC

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

"Waardenburg syndrome" OR "Waardenburg's syndrome"

Study-type breakdown: 0 interventional · 2 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 2026-07-26T23:11:41.751Z