The Facts

What are the signs?

Marfan syndrome can be difficult to diagnose because signs of the condition vary greatly from person to person. Most affected people will not have all the signs and complications of Marfan syndrome. The most common feature is excessive height and long limbs, fingers and toes. This may be accompanied by a protruding or concave chest bone. Other signs include dislocated lenses, short-sightedness, a high-arched palate, crowded teeth and orthodontic problems. Diagnosis can be confirmed by a blood test demonstrating the abnormal gene. These tests are available through referral to a clinical geneticist. Each child of an affected parent has a 50% chance of inheriting Marfan syndrome. Prenatal diagnosis is now available for most families with this condition, where a mutation in the fibrillin-1 gene has been found in a parent. In general, Marfan syndrome is diagnosed after careful physical examination, particularly focusing on the main aspects involved : eyes, skeleton and heart. Major involvement in two out of three of these is required for a clinical diagnosis.

Guide to Marfan syndrome

The Marfan Trust have a general guide about Marfan syndrome. We suggest taking the guide with you when attending medical appointments.

To find out more please download our Marfan Trust Guide to Marfan syndrome

Exercise

For people with Marfan syndrome, certain activities are thought to increase the risk of some of the serious complications.

To find out more please download our Marfan Trust Exercise Guide: Marfan syndrome

Dental

The most common oral sign is a high-arched palate and crowded teeth.

To find out more please download our Marfan Trust Dental Guide: Marfan syndrome

Skeletal

One of the most common features, (but not in all cases), is excessive height and long limbs, fingers and toes. This may be accompanied by a protruding or concave chest bone.

To find out more please download our Marfan Trust Musculoskeletal Problems in Marfan Syndrome

Bowel symptoms

A significant proportion of patients with Marfan syndrome have gastrointestinal disturbances constituting irritable bowel syndrome (IBS). In the general population, IBS commonly first develops in young adults and teenagers.

To find out more please download our Marfan Trust Bowel symptoms in Marfan syndrome

Ears, Nose and Throat (ENT)

Skeletal characteristics in Marfan syndrome can contribute to ENT problems.

To find out more please download our Marfan Trust ENT Aspects of Marfan syndrome

Paediatric

We have created a new leaflet to help parents, schools and children to better understand the condition, so that we can work together to ensure everyone has the best possible start to life. We hope it will provide clear guidance on understanding what a young person may be going through pre and post diagnosis, and what small things can be put into place to help them.

To find out more please download our Paediatric Guide to Marfan syndrome


The Facts
The Facts
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