What it is
Marfan syndrome is an inherited connective-tissue condition caused by changes in the FBN1 gene. It commonly affects the skeleton, the eyes, and the large blood vessel leaving the heart (the aorta).
Signs and symptoms
Arachnodactyly
Long, slender fingers (arachnodactyly) are a recognisable feature of the condition.
Aortic root aneurysm
Widening of the aorta at its root (aortic root aneurysm) is the most serious feature, because it raises the risk of the vessel tearing.
Tall stature
Tall stature with disproportionately long limbs is a common physical feature of Marfan syndrome.
Autosomal dominant inheritance
Marfan syndrome is inherited in an autosomal dominant pattern: a single changed copy of FBN1 can cause it, and it can be passed from an affected parent.
Ectopia lentis
A dislocated lens in the eye (ectopia lentis) is a characteristic feature, alongside aortic widening and the typical skeletal signs.
Pectus carinatum
A breastbone that pushes outward (pectus carinatum) is one of the chest-wall changes seen in Marfan syndrome.
Scoliosis
Curvature of the spine is common and can be significant.
Treatment and management
No disease-modifying treatment is established for this condition in the research mapped here. This is a stated, reviewed fact, not a missing piece of this guide.
That does not mean nothing can be done. Supportive and symptomatic care, managing specific symptoms and complications as they arise, can still matter a great deal. What is right for any individual is a conversation for their own care team.
Turn this into questions for your doctor
The hardest part is often knowing what to ask. PatientLead Health helps families turn what is on this page into the right questions for their care team.
How to read the evidence labels
Where this comes from
This guide is built from 1 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.