Neonatal Marfan syndrome

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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 September 2023.

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