Marfan syndrome (MFS)

What is Marfan syndrome (MFS)?

Marfan syndrome is a genetic disorder that affects mainly the connective tissue in the body. Connective tissue can be found throughout the body, meaning the syndrome can affect many different parts of the body too.

Symptoms may vary between sufferers of the syndrome but involve mainly three systems: skeletal, ocular and cardiovascular.

The syndrome is congenital but not all symptoms and features may be obvious at birth. Some become more apparent in childhood or, even in some cases, in adulthood.

Marfan syndrome occurs in around 1 in every 5,000 people.

What gene changes cause Marfan syndrome (MFS)?

Mutations in the FBN1 gene on chromosome 15 cause the disorder. The syndrome is inherited in 75% of cases, while the remaining 25% of recorded cases occur due to spontaneous genetic mutations.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Marfan syndrome (MFS)?

Individuals with the syndrome are usually tall and thin with long arms, legs and fingers. Symptoms may vary between individuals but scoliosis and hyper-flexible joints are common symptoms.

Other health conditions include serious heart defects, as well as issues affecting the eyes, bones and covering of the spinal cord. There are specific clinical criteria purposed for the syndrome and this includes a cardiovascular evaluation with echocardiogram.

How does someone get tested for Marfan syndrome (MFS)?

The initial testing for Marfan syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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