Details of Disease

General Information of Disease (ID: DISPXPVM)

• Disease Name: Neonatal Marfan syndrome
• Synonyms: neonatal MFS
• 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.
• Disease Hierarchy:
  DISVEUWZ: Marfan syndrome
  DISVS67S: Vascular disease
  DISPXPVM: Neonatal Marfan syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0017309
  UMLS CUI: C4016054
  MedGen ID: 864491
  Orphanet ID: 284979
  SNOMED CT ID: 763839005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FBN1	OTYCJT63	Supportive	Autosomal dominant	[1]

References

• [1] Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome. Clin Genet. 2010 May;77(5):453-63. doi: 10.1111/j.1399-0004.2009.01337.x. Epub 2010 Feb 4.