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ORPHA:474

Jeune syndrome

low confidenceDisorder

Also known as: Asphyxiating thoracic dystrophy of the newborn · JATD · Jeune asphyxiating thoracic dystrophy

Publications

7,142

Trials

1

Interventional, condition-specific

Researchers

1,296

Distinct authors in sample

Gene link

GRK2, KIAA0753

Moderate

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Jeune syndrome, also called asphyxiating thoracic , is a short-rib characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including 'trident' aspect of the acetabula and metaphyseal changes.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

Asphyxiating Thoracic Dystrophy · asphyxiating thoracic dystrophy of the newborn · short-rib thoracic dysplasia · thoracic pelvic phalangeal dystrophy

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Moderate — GRK2, KIAA0753

  2. LiteraturePresent

    7,142 matched papers (3,973 in last 10 years) Source

  3. Phenotype characterisedPresent

    858 HPO annotations (e.g. Short ribs; Short palm; Cleft upper lip) Source

  4. Animal modelPresent

    12 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 trialPresent

    1 matched on ClinicalTrials.gov

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?

Probably — there is moderate evidence for GRK2, KIAA0753.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

858

Associated phenotypes · MONDO:0018770

  • Short ribs
  • Short palm
  • Cleft upper lip
  • Micrognathia
  • Wide nose

Showing 5 of 858 — open Monarch for the full list.

Animal models (Monarch / Alliance)

12

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?

7,142

7,142 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.

7,142 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).

3,973 in the last 10 years · low confidence

Phrase hits: 1,561 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,296

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
    Schmidts M10 papers · 2023

    Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK, Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, 6500 HB Nijmegen, the Netherlands.

    Papers in Europe PMC
  2. 02
    Mitchison HM7 papers · 2023

    Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

    Papers in Europe PMC
  3. 03
    Beales PL6 papers · 2023

    Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK, falkuraya@kfshrc.edu.sa p.beales@ucl.ac.uk.

    Papers in Europe PMC
  4. 04
    Cormier-Daire V5 papers · 2025

    INSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France.

    Papers in Europe PMC
  5. 05
    Kayserili H5 papers · 2026

    1] Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, 34093 Istanbul, Turkey [2] Medical Genetics Department, Koc University School of Medicine, 34010 Istanbul, Turkey.

    Papers in Europe PMC
  6. 06
    Pazour GJ5 papers · 2025

    Program in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, MA, USA.

    Papers in Europe PMC
  7. 07
    Wang W5 papers · 2026

    Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

    Papers in Europe PMC
  8. 08
    Boldt K4 papers · 2025

    Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, Tübingen 72074, Germany.

    Papers in Europe PMC
  9. 09
    Chen X4 papers · 2025

    Department of Ultrasonography, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430070, China. 928339431@qq.com.

    Papers in Europe PMC
  10. 10
    Li C4 papers · 2026

    Xiangya School of Medicine, Central South University, Changsha 410013, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

1 observational study matches 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 Jeune 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.

("Jeune syndrome" OR "Asphyxiating thoracic dystrophy of the newborn" OR "Asphyxiating thoracic dystrophy of newborn" OR "Jeune asphyxiating thoracic dystrophy" OR "Asphyxiating Thoracic Dystrophy" OR "short-rib thoracic dysplasia" OR "thoracic pelvic phalangeal dystrophy") OR ("GRK2" OR "GRK2 syndrome" OR "GRK2-related" OR "KIAA0753" OR "KIAA0753 syndrome" OR "KIAA0753-related")

Run this search on Europe PMC

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

"Jeune syndrome" OR "Asphyxiating thoracic dystrophy of the newborn" OR "Asphyxiating thoracic dystrophy of newborn" OR "Jeune asphyxiating thoracic dystrophy" OR "Asphyxiating Thoracic Dystrophy" OR "short-rib thoracic dysplasia" OR "thoracic pelvic phalangeal dystrophy"

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

Study-type breakdown: 1 interventional · 1 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: JATD

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:57:14.406Z