A condition of great individual variability, Marfan syndrome can differ wildly from one person to the next, inwardly but also outwardly. This is embodied perfectly in brothers Zachary and Louis. Zachary is typical with long legs and fingers, whilst Louis looks atypical with no obvious visible signs. Both have the condition. As their mother says, ?it’s what’s on the inside that is most worrying."
by Ruth Rogers
"Marfan Syndrome is easily missed as people can vary in symptoms and appearance.
We were VERY fortunate that we went to an Outpatients appointment one day about Zach’s wonky finger where a random doctor questioned us to whether we had heard of Marfan Syndrome. The ball rolled from there and here we are with a family of Marfans!.
Marfan is usually first looked at through the Ghent criteria. This is where they look for markers and then put it on a scale.
Great if you look like a stereotypical Marfan not so much if you’re on the milder side like Louis.
It is also difficult to diagnose in young children as it can progress and start causing issues as the child gets older into teenage/puberty years.
Genetic testing for Marfan Syndrome is very expensive and also timely.
Below are the usual features of someone with Marfan but as you can see Louis and Zach are quite different.
*Long arms, legs and fingers
*Tall and thin body type
*Chest sinks in or sticks out
*Deep set eyes that go down in the corner
*Stretch marks on the skin that are not related to weight gain or loss
This is what is going on the outside but it’s the inside which is the most worrying and why people should be aware of this syndrome. Knowledge saves lives!"