Genetic/Connective Tissue

Marfan Syndrome

Marfan syndrome is a genetic disorder that affects the body's connective tissue. Connective tissue holds all the body's cells, organs, and tissue together. It also plays an important role in helping the body grow and develop properly. Marfan syndrome most commonly affects the heart, eyes, blood vessels, and skeleton.

10

Symptoms

2

Causes

5

Treatments

2

Prevention

Condition Overview

Understand key symptoms, causes, diagnosis options, and treatment pathways for Marfan Syndrome. This overview is intended for patient awareness and should be followed by specialist consultation.

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Symptoms

  • Tall and slender build
  • Long arms, legs, and fingers
  • Curved spine (scoliosis)
  • Chest sinks in or sticks out
  • Flexible joints
  • Flat feet
  • Crowded teeth
  • Stretch marks
  • Eye lens dislocation
  • Aortic aneurysm or dissection

Causes

  • Mutation in the FBN1 gene encoding fibrillin-1
  • Autosomal dominant inheritance (25% are new mutations)

Diagnosis

  • Physical examination
  • Echocardiogram
  • Eye examination
  • Genetic testing
  • Ghent criteria

Treatment

  • Beta blockers or ARBs to protect the aorta
  • Regular cardiac monitoring
  • Aortic surgery if needed
  • Eye surgery
  • Back brace or surgery for scoliosis

Risk Factors

  • Family history
  • New genetic mutation

Prevention

  • No prevention (genetic condition)
  • Regular monitoring can prevent serious complications

Prevalence

Marfan syndrome affects about 1 in 5,000 people worldwide.

Related Conditions

Genetic

Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect the connective tissues — primarily the skin, joints, and blood vessel walls. People who have EDS usually have overly flexible joints and stretchy, fragile skin. EDS is caused by defects in collagen production, and there are 13 subtypes with varying severity.

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