Marfan Association UK
Support for Today with Tomorrow in Mind
Registered Charity Number: 802727
Through the work undertaken by the Marfan Association UK, in conjunction with a large number of medical professionals over many years, much has been learned about Marfan syndrome. Greatly improved medical management and surgical techniques are now available which are improving the lives of Marfan patients around the world.
Regular monitoring and a sensible life-style are essential.
What is Marfan Syndrome?
Marfan syndrome is one of the more common disorders of connective tissue that can affect the Eyes, Skeleton, Lungs, Heart and Blood Vessels, and may be life-threatening. The effects of Marfan syndrome varies between individuals, some people only being mildly affected.
Marfan syndrome is a hereditary disorder in 75% of cases whilst being spontaneous in the other 25%. This means that if a parent has Marfan syndrome, there is a 50/50 chance of each child not inheriting the Marfan gene. The Marfan gene was discovered in 1990 and in 1991 a deficiency was found in the glycoprotein, fibrillin. This initiated many research projects and diagnosis has improved because of the results achieved.
Tall thin physique, disproportionately long limbs, fingers and toes, lax ankles, flat feet, spinal curvature, abnormally shaped narrow chest (with pigeon or funnel deformity), armspan usually greater than height, joint hypermobility or contractures and dislocations, striae (stretch marks). Dilatation of the lumbar dural sac occurs in about 75% of patients. Hernias are common.
Dilatation of ascending and sometimes descending aorta, incompetence of aortic and mitral valves, aneurysm and dissection of aorta. Respiratory: Pneumothorax (collapse of the lungs), bronchiectasis, emphysema and asthma.
Subluxation or dislocation of lens, myopia (short sight) and unstable refraction, detachment of retina, strabismus (squint), glaucoma.
High-arched palate, crowding of teeth.
Even within one family the severity and pattern of disease varies.
A Syndrome is a collection of physical features which, when they occur together,
enable a physician to recognise a certain condition.
Please help us to improve and save lives.
The Marfan Association UK takes no responsibility for any text on this microsite
that may be submitted by anyone other than the Marfan Association UK Trustees.
Marfan Association UK
5 Aldershot Road
Phone: 01252 810472
Fax: 01252 810473
Charity Choice Directory Listings
Help us raise money by becoming a fundraiser. You can set up fundraising events for the charity or any of our appeals. If you're interested then please click the button below to set up your fundraising event.
We currently have 25 friends, including: