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ORPHA:319182

Wiedemann-Steiner syndrome

medium confidenceDisorder

Also known as: Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

Publications

382

86.3th percentile

Trials

33

Interventional, condition-specific

Researchers

1,633

Distinct authors in sample

Gene link

KMT2A

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic multiple anomalies/ syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, and, most commonly, mild to moderate .

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

hypertrichosis-short stature-facial dysmorphism-developmental delay 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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — KMT2A

  2. LiteraturePresent

    382 matched papers (340 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    33 matched on ClinicalTrials.gov (18 recruiting in sample)

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 (KMT2A).

GenCC classification: Definitive.

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?

382

382 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=5449) is 41.

382 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).

340 in the last 10 years · medium confidence · 86.3th percentile (publications denominator)

Phrase hits: 382 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,633

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Ng R15 papers · 2026

    Department of Neuropsychology, Kennedy Krieger Institute, 1750 E. Fairmount Ave, Baltimore, USA. ngr@kennedykrieger.org.

    Papers in Europe PMC
  2. 02
    Bjornsson HT13 papers · 2025

    McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. hbjorns1@jhmi.edu.

    Papers in Europe PMC
  3. 03
    Harris J13 papers · 2026

    Department of Neuropsychology, Kennedy Krieger Institute, 1750 E. Fairmount Ave, Baltimore, USA.

    Papers in Europe PMC
  4. 04
    Chen Y8 papers · 2026

    Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Fahrner JA8 papers · 2024

    Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

    Papers in Europe PMC
  6. 06
    Li X7 papers · 2026

    Taizhou Central Hospital (Taizhou University Hospital), Taizhou, China.

    Papers in Europe PMC
  7. 07
    Sadikovic B7 papers · 2026

    Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada.

    Papers in Europe PMC
  8. 08
    Milani D6 papers · 2026

    UOSD Pediatria ad alta intensità di cura, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico Milano, Milano, Italy.

    Papers in Europe PMC
  9. 09
    Bienvenu T5 papers · 2026

    Inserm, Institut Cochin, U1016, Paris, France. thierry.bienvenu@inserm.fr.

    Papers in Europe PMC
  10. 10
    Gervasini C5 papers · 2026

    Genetica Medica e Biologia Applicata, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milano, Italy. cristina.gervasini@unimi.it.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

33

interventional trials for this specific condition

33 interventional trials matched this specific condition name; 18 currently recruiting in our sample.

Data as of 27 July 2026

33 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96th percentile).

medium confidence · 96th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

33 interventional trials matched after quoted-phrase search and title/condition post-filter.

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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Wiedemann-Steiner syndrome" OR "Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Wiedemann Grosse Dibbern syndrome

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

"Wiedemann-Steiner syndrome" OR "Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome" OR "Wiedemann Grosse Dibbern syndrome" OR "KMT2A"

Recall-expansion terms: KMT2A

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 33 interventional · 2 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion

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
  • Publication count (382) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T13:17:40.721Z