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Marfan Syndrome

Marfan syndrome is a genetic disorder that affects the development of connective tissues in the body.

Marfan Syndrome

Marfan Syndrome is caused by a mutation on chromosome pair number 15.

This gene codes for the production of fibrillin, the protein that builds connective tissues in the body.

Marfan syndrome was first recorded in 1896 by a French pediatrician named Marfan. However, it was not until 1991 that a researcher named Ramirez discovered the gene it was carried on.

Autosomal Disorder

A tall, thin build.

Long arms, legs, fingers, and toes and flexible joints.

A spine that curves to one side. This condition is called scoliosis (sko-le-O-sis).

A chest that sinks in or sticks out. These conditions are called pectus excavatum (eks-ka-VA-tum) and pectus carinatum (ka-ri-NA-tum), respectively.

Teeth that are too crowded.

Flat feet (NIH)

Signs and Symptoms

Most doctors can identify the disease by the physical traits they observe.

A karyotype can be run in order to determine if someone has Marfan syndrome.

If a couple wants to know if their unborn baby has Marfan syndrome, they can have an amneocentesis done.

Diagnosis

There are different treatments for Marfan syndrome.

Medicines can be given through an IV or shots that contain the deficient protein.

For severe cases, surgery to fix the problem is an option.

If it effects the eyes, glasses or laser surgery can be used to treat the syndrome.

Treatments

Questions?