neonatal Marfan syndrome
Findings
No curated finding names neonatal Marfan syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0017309), read 2026-09-29. CC BY 4.0.
Features
43 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- EmphysemaHPOHP:0002097
- Obligate (100% of cases)
- Mitral regurgitationHPOHP:0001653
- Obligate (100% of cases)
- Tricuspid regurgitationHPOHP:0005180
- Obligate (100% of cases)
- Abnormal cardiac ventricle morphologyHPOHP:0001713
- Very frequent (80% to 99% of cases)
- Abnormality of the cardiovascular systemHPOHP:0001626
- Very frequent (80% to 99% of cases)
- Adducted thumbHPOHP:0001181
- Very frequent (80% to 99% of cases)
- Arachnodactyly
Show the remaining 31
- Enlarged thoraxHPOHP:0100625
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Flexion contractureHPOHP:0001371
- Very frequent (80% to 99% of cases)
- Heart murmurHPOHP:0030148
- Very frequent (80% to 99% of cases)
- High myopiaHPOHP:0011003
- Very frequent (80% to 99% of cases)
- HypoxemiaHPOHP:0012418
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FBN1HGNC:3603
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: neonatal Marfan syndrome
- Also called
- neonatal MFS