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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Neonatal Marfan syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.