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neonatal Marfan syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neonatal Marfan syndrome

MONDO:0017309

Also known as:neonatal MFS

Overview

Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occurring during the neonatal 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 progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.

ResearchLimited published research (6 articles)

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neonatal Marfan syndrome.

6 publications have been identified in PubMed for neonatal Marfan syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (33%), and Epidemiology / Natural History (17%).

Recent Publications

Richard C (2026). [PMID: 41419415](https://pubmed.ncbi.nlm.nih.gov/41419415/). *Journal francais d'ophtalmologie*. [Case Report / Case Series]
van der Leest EC (2025). [PMID: 40065510](https://pubmed.ncbi.nlm.nih.gov/40065510/). *Clinical genetics*. [Case Report / Case Series]
Chang FC (2025). [PMID: 41475970](https://pubmed.ncbi.nlm.nih.gov/41475970/). *Heart (British Cardiac Society)*. [Epidemiology / Natural History]
Pugnaloni F (2024). [PMID: 39294662](https://pubmed.ncbi.nlm.nih.gov/39294662/). *Italian journal of pediatrics*. [Review / Meta-Analysis]
Zodanu GKE (2024). [PMID: 38791509](https://pubmed.ncbi.nlm.nih.gov/38791509/). *International journal of molecular sciences*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:284979

GARD

Genetic and Rare Diseases Info Center

GARD:21128

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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Kisho

neonatal Marfan syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Novel findings of corneal neural features in FBN1-related marfan syndrome.

GEMS-App and the search for answers in Marfan syndrome

"Alone we are rare, together we are strong!": Rare Disease Day Advocacy 2026 - Marfan Foundation

A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of life.

neonatal Marfan syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Novel findings of corneal neural features in FBN1-related marfan syndrome.

GEMS-App and the search for answers in Marfan syndrome

"Alone we are rare, together we are strong!": Rare Disease Day Advocacy 2026 - Marfan Foundation

A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of life.