Neonatal Marfan syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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: // 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.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.