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ORPHA:284979

Neonatal Marfan syndrome

high confidenceDisorder

Also known as: Neonatal MFS

Publications

304

61.1th percentile

Trials

0

Interventional, condition-specific

Researchers

1,133

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.

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 (1)

neonatal MFS

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    304 matched papers (131 in last 10 years) Source

  3. Phenotype characterisedPresent

    43 HPO annotations (e.g. Mitral regurgitation; Emphysema; Tricuspid regurgitation) 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 trialPartial

    None under the specific name; 27 for broader category Marfan syndrome

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

43

Associated phenotypes · MONDO:0017309

  • Mitral regurgitation
  • Emphysema
  • Tricuspid regurgitation
  • Dolichocephaly
  • Megalocornea

Showing 5 of 43 — 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?

304

304 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=3967) is 59.

304 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).

131 in the last 10 years · high confidence · 61.1th percentile (publications denominator)

Phrase hits: 304 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,133

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
    Boileau C15 papers · 2021

    Université de Paris, Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat-Claude-Bernard, Paris, France. catherine.boileau@aphp.fr.

    Papers in Europe PMC
  2. 02
    Jondeau G12 papers · 2023

    Université de Paris, Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat-Claude-Bernard, Paris, France.

    Papers in Europe PMC
  3. 03
    Godfrey M10 papers · 2003

    University of Nebraska Medical Center, Omaha 68198-5430, USA.

    Papers in Europe PMC
  4. 04
    De Backer J7 papers · 2024

    Department of Paediatric Cardiology and Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

    Papers in Europe PMC
  5. 05
    Faivre L7 papers · 2011

    Centre de Génétique, Centre Hospitalier Universitaire, Dijon, France. laurence.faivre@chu-dijon.fr

    Papers in Europe PMC
  6. 06
    De Paepe A6 papers · 2011
    Papers in Europe PMC
  7. 07
    Robinson PN6 papers · 2016

    Institut für Medizinische Genetik und Humangenetik Charité Berlin, Berlin, Germany.

    Papers in Europe PMC
  8. 08
    Arbustini E5 papers · 2011
    Papers in Europe PMC
  9. 09
    Arnaud P5 papers · 2021

    Université de Paris, Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat-Claude-Bernard, Paris, France.

    Papers in Europe PMC
  10. 10
    Arslan-Kirchner M5 papers · 2011

    Institute of Human Genetics, Hannover Medical School, Hannover, Germany. arslan.mine@mh-hannover.de

    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). 27 trials are registered for Marfan syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

high 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.

27 interventional trials matched Marfan syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: Marfan syndrome

27

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 1 · dropped 0 · fetched 2026-07-30

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).

Uncertain / not reviewed (1)

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 Neonatal Marfan 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.

"Neonatal Marfan syndrome" OR "Neonatal MFS"

Run this search on Europe PMC

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

"Neonatal Marfan syndrome" OR "Neonatal MFS"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Marfan syndrome"

Query health: ok — strategies attempted: phrase; with hits: phrase

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

Ingested 2026-07-27T12:08:50.239Z