Marfan syndrome is a genetic disorder of the body's connective tissue, caused by mutations in a gene responsible for a protein that gives connective tissue its strength and elasticity. It typically affects the skeleton, eyes, heart, and blood vessels, and people with the condition are often unusually tall with long, slender limbs and fingers. Because it can weaken the wall of the aorta, the condition carries a risk of serious cardiovascular complications.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) First Described Connections
Associated With
Inherited connective-tissue disorder (FBN1 gene); genetics specialty.
Sources
1. Wikipedia: Marfan syndrome
WikipediaArticle text
MFS is caused by a mutation in FBN1, one of the genes that make fibrillin, which results in abnormal connective tissue.
Lead section, body-system statement
The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm.
Lead section, transmission-route statement
Marfan syndrome (MFS) is a multisystemic genetic disorder that affects the connective tissue.
Lead section, body-system statement (nervous)
The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected.
View the Source 2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVIIQuote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
3. Wikipedia: Non-communicable disease
WikipediaInherited/genetic diseases sectionQuote, Inherited/genetic diseases section
Down syndrome and Cystic fibrosis.
4. Marfan Syndrome (Wikipedia)
Wikidata: Marfan Syndrome
Wikidata Q208562, class allow-list match (w-wdresolver-0926)View the Source Reader Challenges (0)
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