Neonatal Marfan syndrome
Synonyms: Neonatal MFS
Neonatal Marfan syndrome is a rare severe and life-threatening genetic disease occuring 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Neonatal Marfan syndrome?
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Advocacy Organizations
The Marfan Foundation
The Marfan Foundation is a nonprofit organization that saves lives and improves the quality of life of individuals with genetic aortic and vascular conditions including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes.
Clinical Trials
For a list of clinical trials in this disease area, please click here.