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ORPHA:3206

Stüve-Wiedemann syndrome

low confidenceDisorder

Also known as: Neonatal Schwartz-Jampel syndrome · SJS2 · STWS · SWS · Schwartz-Jampel syndrome type 2 · Stüve-Wiedemann dysplasia · Stüve-Wiedemann syndrome type 1

Publications

9,094

Trials

0

Interventional, condition-specific

Researchers

1,363

Distinct authors in sample

Gene link

LIFR

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Stüve-Wiedemann syndrome (SWS) is a rare primary skeletal , characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

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 (5)

Schwartz-Jampel syndrome neonatal · Schwartz-Jampel syndrome, neonatal · Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome · Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome · neonatal Schwartz-Jampel 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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — LIFR

  2. LiteraturePresent

    9,094 matched papers (5,471 in last 10 years) Source

  3. Phenotype characterisedPresent

    127 HPO annotations (e.g. Enlarged joints; Talipes valgus; Seizure) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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 (LIFR).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

127

Associated phenotypes · MONDO:0800043

  • Enlarged joints
  • Talipes valgus
  • Seizure
  • Hypotonia
  • Hoarse voice

Showing 5 of 127 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

9,094

9,094 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.

9,094 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).

5,471 in the last 10 years · low confidence

Phrase hits: 213 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,363

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
    Cormier-Daire V15 papers · 2025

    Department of Medical Genetics, Hôpital Necker, Paris, France. cormier@necker.fr

    Papers in Europe PMC
  2. 02
    Munnich A8 papers · 2018

    Department of Medical Genetics, INSERM U1163, Université Paris-Descartes, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.

    Papers in Europe PMC
  3. 03
    Superti-Furga A8 papers · 2023

    Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

    Papers in Europe PMC
  4. 04
    Uhlig HH7 papers · 2023

    Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.

    Papers in Europe PMC
  5. 05
    Al-Gazali LI6 papers · 2007

    Department of Paediatrics, UAE University, Al Ain, United Arab Emirates.

    Papers in Europe PMC
  6. 06
    Chen YH6 papers · 2023

    Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.

    Papers in Europe PMC
  7. 07
    Dagoneau N6 papers · 2010

    Department of Medical Genetics and INSERM U393, Hôpital Necker-Enfants Malades, Paris, France.

    Papers in Europe PMC
  8. 08
    Crisponi G5 papers · 2025

    Clinica Sant'Anna, 09127 Cagliari, Italy.

    Papers in Europe PMC
  9. 09
    Crisponi L5 papers · 2025

    Istituto di Neurogenetica e Neurofarmacologia-Consiglio Nazionale delle Ricerche, Cittadella Universitaria di Monserrato, Monserrato, Italy. laura.crisponi@inn.cnr.it

    Papers in Europe PMC
  10. 10
    Di Rocco M5 papers · 2018

    Second Unit of Pediatrics, Istituto G. Gaslini, Genoa, Italy. majadirocco@ospedale-gaslini.ge.it

    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 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.

low 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.

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 Stüve-Wiedemann 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.

("Stüve-Wiedemann syndrome" OR "Neonatal Schwartz-Jampel syndrome" OR "Schwartz-Jampel syndrome type 2" OR "Stüve-Wiedemann dysplasia" OR "Stüve-Wiedemann syndrome type 1" OR "Schwartz-Jampel syndrome neonatal" OR "Schwartz-Jampel syndrome, neonatal" OR "Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome" OR "Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome") OR ("LIFR" OR "LIFR syndrome" OR "LIFR-related")

Run this search on Europe PMC

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

"Stüve-Wiedemann syndrome" OR "Neonatal Schwartz-Jampel syndrome" OR "Schwartz-Jampel syndrome type 2" OR "Stüve-Wiedemann dysplasia" OR "Stüve-Wiedemann syndrome type 1" OR "Schwartz-Jampel syndrome neonatal" OR "Schwartz-Jampel syndrome, neonatal" OR "Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome" OR "Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome"

Study-type breakdown: 0 interventional · 0 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

Synonyms dropped by stoplist: SJS2; STWS; SWS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 3 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (9094) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T22:30:00.039Z