ORPHA:284979
Neonatal Marfan syndrome
Also known as: Neonatal MFS
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
304
71.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,133
Distinct authors in sample
Gene link
—
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017309
- UMLS:C4016054
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.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
304 matched papers (131 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
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=5449) is 41.
304 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).
131 in the last 10 years · high confidence · 71.1th percentile (publications denominator)
Phrase hits: 304 · MeSH hits: 0
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.
- 01Boileau 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 - 02Jondeau G12 papers · 2023
Université de Paris, Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat-Claude-Bernard, Paris, France.
Papers in Europe PMC - 03Godfrey M10 papers · 2003
University of Nebraska Medical Center, Omaha 68198-5430, USA.
Papers in Europe PMC - 04De Backer J7 papers · 2024
Department of Paediatric Cardiology and Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Papers in Europe PMC - 05Faivre L7 papers · 2011
Centre de Génétique, Centre Hospitalier Universitaire, Dijon, France. laurence.faivre@chu-dijon.fr
Papers in Europe PMC - 06De Paepe A6 papers · 2011Papers in Europe PMC
- 07Robinson PN6 papers · 2016
Institut für Medizinische Genetik und Humangenetik Charité Berlin, Berlin, Germany.
Papers in Europe PMC - 08Arbustini E5 papers · 2011Papers in Europe PMC
- 09Arnaud P5 papers · 2021
Université de Paris, Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat-Claude-Bernard, Paris, France.
Papers in Europe PMC - 10Arslan-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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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
- NCT05809323·RECRUITING·Marfan Syndrome Moderate Exercise Trial II
Conditions: Marfan Syndrome·Matched via name phrase
- NCT05838235·RECRUITING·Adapted Physical Activity Program (APA) for Effort Rehabilitation of Children and Teenagers With Marfan Syndrome
Conditions: Marfan Syndrome·Matched via name phrase
- NCT07495267·NOT YET RECRUITING·Nutritional Ketosis Marfan
Conditions: Marfan Syndrome · Aortic Dissection·Matched via name phrase
- NCT02050113·RECRUITING·Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices
Conditions: Complex Aortic Aneurysms · Thoracoabdominal Aneurysms · Pararenal Aneurysms · Juxtarenal Aneurysms·Matched via name phrase
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 on the overview but are not added to the query string.
"Neonatal Marfan syndrome" OR "Neonatal MFS"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neonatal Marfan syndrome" OR "Neonatal MFS" OR "Marfan and Marfan-related disorder"
Recall-expansion terms: Marfan and Marfan-related disorder
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: suspect — strategies attempted: phrase, recall-expansion; 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