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ORPHA:280

Wolf-Hirschhorn syndrome

medium confidenceDisorder

Also known as: 4p- syndrome · Distal deletion 4p · Distal monosomy 4p · Telomeric deletion 4p

Publications

3,921

91.5th percentile

Trials

0

Interventional, condition-specific

Researchers

1,252

Distinct authors in sample

Gene link

NSD2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A developmental disorder characterized by typical craniofacial features, and postnatal growth impairment, , severe delayed psychomotor development, , and .

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 (9)

4p deletion syndrome · Pitt syndrome · Pitt-Rogers-Danks syndrome · Wittwer syndrome · Wolf-Hirschhorn syndrome, Isolated cases · chromosome 4p16.3 deletion syndrome · distal deletion 4p · distal monosomy 4p · telomeric deletion 4p

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 — NSD2

  2. LiteraturePresent

    3,921 matched papers (2,589 in last 10 years) Source

  3. Phenotype characterisedPresent

    186 HPO annotations (e.g. Radioulnar synostosis; Cleft palate; Sensorineural hearing impairment) Source

  4. Animal modelPresent

    7 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 (NSD2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

186

Associated phenotypes · MONDO:0008684

  • Radioulnar synostosis
  • Cleft palate
  • Sensorineural hearing impairment
  • Conductive hearing impairment
  • Hypospadias

Showing 5 of 186 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

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?

3,921

3,921 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=3967) is 59.

3,921 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).

2,589 in the last 10 years · medium confidence · 91.5th percentile (publications denominator)

Phrase hits: 2,025 · MeSH hits: 36

Open Europe PMC search

Who's working on it?

1,252

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
    Carey JC9 papers · 2025

    University of Utah School of Medicine, Utah.

    Papers in Europe PMC
  2. 02
    Battaglia A7 papers · 2021

    Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.

    Papers in Europe PMC
  3. 03
    Nevado J7 papers · 2025

    Medical and Molecular Genetics Institute (INGEMM), La Paz University Hospital, IdiPAZ, Madrid, Spain.

    Papers in Europe PMC
  4. 04
    Li Y5 papers · 2026

    Department of Biotherapy, Cancer Research Institute, The First Affiliated Hospital of China Medical University, Shenyang, 110001, Liaoning, China.

    Papers in Europe PMC
  5. 05
    Lortz A5 papers · 2025

    4p- Support Group, Delaware, Ohio.

    Papers in Europe PMC
  6. 06
    Chen Y4 papers · 2026

    Department of Ultrasound, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, China.

    Papers in Europe PMC
  7. 07
    Lapunzina P4 papers · 2025

    Medical and Molecular Genetics Institute (INGEMM), La Paz University Hospital, IdiPAZ, Madrid, Spain.

    Papers in Europe PMC
  8. 08
    Liu H4 papers · 2026

    Department of Medical Affairs, Burning Rock Biotech, Guangzhou, Guangdong 510000, P.R. China.

    Papers in Europe PMC
  9. 09
    Okamoto N4 papers · 2024

    Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.

    Papers in Europe PMC
  10. 10
    Wang J4 papers · 2026

    Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, No. 290 West Second Street, Shayan Road, Chengdu, Sichuan, 610045, 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 9 September 2026 · last trial check 9 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.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 1 · 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 Wolf-Hirschhorn 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.

("Wolf-Hirschhorn syndrome" OR "4p- syndrome" OR "Distal deletion 4p" OR "Distal monosomy 4p" OR "Telomeric deletion 4p" OR "4p deletion syndrome" OR "Pitt syndrome" OR "Pitt-Rogers-Danks syndrome" OR "Wittwer syndrome" OR "Wolf-Hirschhorn syndrome, Isolated cases" OR "chromosome 4p16.3 deletion syndrome") OR (MESH:"Wolf-Hirschhorn Syndrome") OR ("NSD2" OR "NSD2 syndrome" OR "NSD2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Wolf-Hirschhorn Syndrome

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

"Wolf-Hirschhorn syndrome" OR "4p- syndrome" OR "Distal deletion 4p" OR "Distal monosomy 4p" OR "Telomeric deletion 4p" OR "4p deletion syndrome" OR "Pitt syndrome" OR "Pitt-Rogers-Danks syndrome" OR "Wittwer syndrome" OR "Wolf-Hirschhorn syndrome, Isolated cases" OR "chromosome 4p16.3 deletion syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • "Pitt-Rogers-Danks syndrome" also appears on ORPHA:98788
  • "Wittwer syndrome" also appears on ORPHA:85291

Ingested 2026-07-26T02:26:35.330Z