Marfan syndrome

Also known as: MFS

Connective tissue disorder with aortic root dilation, ectopia lentis and skeletal overgrowth.

Medical specialty: Cardiology
Subspecialty: Cardiology / Heritable aortic disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, from childhood
Gene(s) involved: FBN1, SMAD3, TGFB2, TGFBR1, TGFBR2

Etiology & mechanism

FBN1 variants disrupt fibrillin-1 microfibrils and increase TGF-beta signaling.

Gene(s) involved (5)

FBN1SMAD3TGFB2TGFBR1TGFBR2

Symptoms & signs (12)

aortic dissectionaortic root dilationarachnodactylydural ectasiaectopia lentisjoint hypermobilitymitral valve prolapsepectus deformitypneumothoraxscoliosisstriaetall stature

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.