Marfan Syndrome | Symptoms & Causes

What are the symptoms of Marfan syndrome?

Many traits of Marfan syndrome may be quite mild early in life and become more noticeable as your child grows. It’s not unusual for a child to be diagnosed in the teenage years.

Children with Marfan syndrome often have specific physical traits that may become more noticeable as a child grows. These traits can include:

  • long arms, legs, fingers and toes
  • long, narrow face
  • flexible joints
  • short torso
  • a spine that curves to one side (scoliosis)
  • a chest that sinks in or out (pectus excavatum or pectus carinatum)
  • eye problems, like nearsightedness or a dislocated lens
  • overly crowded teeth
  • flat feet
  • unexplained stretch marks on the skin

Not everyone who has these traits has Marfan syndrome. If you’re concerned that your child may have Marfan syndrome, it’s important to see a doctor who’s experienced in diagnosing genetic disorders.

What are the causes of Marfan syndrome?

The syndrome is caused by a defect in a gene known as FBN1, which controls the structure of fibrillin-1, a protein that’s an important part of the connective tissue in the body.

About 75 percent of children with Marfan syndrome have inherited the condition from a parent. In the other 25 percent of children, the gene mutates spontaneously for no apparent reason.