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Neonatal Marfan syndrome
Disease definition
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.
ORPHA:284979
Classification level: Disorder- Synonym(s):
- Neonatal MFS
- Prevalence: Unknown
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.4
- ICD-11: LD28.0Y
- OMIM: -
- UMLS: C4016054
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)
Detailed information
General public
- Article for general public
- Français (2019, pdf) - Fondation Groupama
Guidelines
- Clinical practice guidelines
- English (2023) - Eur J Med Genet
Disease review articles
- Clinical genetics review
- English (2022) - GeneReviews
produced/endorsed by ERN(s) 
produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.