Features of Marfan syndrome

Although everyone who has Marfan has a mutation in the FBN1 gene, not everyone will have the same symptoms and manifestations of the disorder, this is called variable expression. Some individuals have many of the features listed below while others have very few which can make diagnosis difficult. Though people are born with Marfan syndrome, features can appear at any age. While some people have features at birth or as young children, others develop features later in life.

Early diagnosis and continued management is important to monitor the progression of features to ensure early treatments. Some treatments can prevent symptoms from getting worst and can even save lives.

Some features are easy to see:

• Long arms, legs and fingers

• Tall and thin body type

• Severe nearsightedness

• Curved spine (this is called Scoliosis)

• Chest protrudes or sinks in (this is called pectus carinatum or pectus excavatum)

• Flexible joints

• Flat feet

• Crowded teeth

• Stretch marks on the skin that are not related to weight gain or loss

Some features are not easy to see:

• Widening of the aorta (blood vessel that carries blood away from the heart to the rest of the body)

• Mitral valve prolapse

• Lung collapse (this is called pneumothorax)

• Dislocated lens (this is called ectopia lentis)

• Detached retina

• Early glaucoma and cataracts