Also known as: Marfan’s syndrome.
What is Marfan syndrome?
Marfan syndrome is a genetic disorder that negatively affects the connective tissue of the body. The problems caused by Marfan syndrome can lead to issues with the heart, blood vessels, muscles, bones and ligaments, among other problems.
What causes Marfan syndrome?
Marfan syndrome is caused by genetic mutations in Fibrillin gene. In most cases, it is inherited from parents and passed along to the children, though it can also occur randomly.
What are the symptoms of Marfan syndrome?
Common symptoms of Marfan syndrome include a tall, slender build with long arms, legs and fingers. These are accompanied by heart problems, nearsightedness, a curved spine (scoliosis), flat feet and other symptoms.
What are Marfan syndrome care options?
There is no cure for Marfan syndrome. Treatment is focused on preventing problems or managing them as they occur through medications, therapy and surgery.
Reviewed by: Parul B Jayakar, MD
This page was last updated on: 5/1/2018 3:34:16 PM
From the Newsdesk
Nicklaus Children's Hospital will be one of a handful in the country to offer a fast turn-around on genome sequencing that can be a key to saving infants with rare and hard-to-diagnose genetic disorders. As seen on The Miami Herald.
Enzymes are particularly important in the processing of medicines and drugs. They determine how our bodies are going to handle the medicines we take, and if those medicines are going to help us feel better or not. This research study includes testing the status of the CYP2D6 gene in children.