Connective tissue disorder with aortic root dilation, ectopia lentis and skeletal overgrowth.
- 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
- Alternative names & eponyms
- MFS
Etiology & mechanism
FBN1 variants disrupt fibrillin-1 microfibrils and increase TGF-beta signaling.
Gene(s) involved (5)
Symptoms & signs (12)
In plain terms, someone with Marfan syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
4 shared
Shprintzen–Goldberg syndrome
aortic root dilation, joint hypermobility, mitral valve prolapse, scoliosis
3 shared
Beals–Hecht syndrome
aortic root dilation, arachnodactyly, mitral valve prolapse
3 shared
Ehlers–Danlos syndrome, classic and cardiac-valvular types
aortic root dilation, joint hypermobility, mitral valve prolapse
2 shared
Sotos syndrome
scoliosis, tall stature
2 shared
Vascular Ehlers–Danlos syndrome
aortic dissection, pneumothorax
1 shared
Beals syndrome
arachnodactyly
1 shared
Ehlers–Danlos syndrome, classical type
joint hypermobility
1 shared
Haim–Munk syndrome
arachnodactyly
1 shared
Hyperimmunoglobulin E syndrome
scoliosis
1 shared
Hypermobile Ehlers–Danlos syndrome
joint hypermobility
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