ORPHA:280
Wolf-Hirschhorn syndrome
Also known as: 4p- syndrome · Distal deletion 4p · Distal monosomy 4p · Telomeric deletion 4p
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.
Is anyone studying this?
2,025
2,025 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=183) is 38.
2,025 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
949 in the last 10 years · high confidence · 94.8th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (NSD2).
GenCC classification: Definitive.
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.
- 01
- 02Battaglia A7 papers · 2021
Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.
Papers in Europe PMC - 03Nevado J7 papers · 2025
Medical and Molecular Genetics Institute (INGEMM), La Paz University Hospital, IdiPAZ, Madrid, Spain.
Papers in Europe PMC - 04Li 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 - 05
- 06Chen Y4 papers · 2026
Department of Ultrasound, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, China.
Papers in Europe PMC - 07Lapunzina P4 papers · 2025
Medical and Molecular Genetics Institute (INGEMM), La Paz University Hospital, IdiPAZ, Madrid, Spain.
Papers in Europe PMC - 08Liu H4 papers · 2026
Department of Medical Affairs, Burning Rock Biotech, Guangzhou, Guangdong 510000, P.R. China.
Papers in Europe PMC - 09Okamoto N4 papers · 2024
Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Papers in Europe PMC - 10Wang 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
Recruiting interventional trials
Trials testing a treatment 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 above — 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.
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 below 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"
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" OR "NSD2"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:D054877 OMIM:194190 UMLS:C1956097 NCIT:C35528
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus