Welcome to marfan UK
Marfan UK is not so much to inform people medically about Marfans syndrome, but to create a social enviroment for people with marfans syndrome to discuss their problems regarding this condition. This will be done primarily via the marfan uk chatroom. Which is open not just to people suffering from Marfans syndrome, but to their friends and relatives aswell.
Definition of marfan syndrome
Definition:
Marfan syndrome is an inheritable disorder of connective tissue (which adds strength to the bodies structures) that affects the skeletal system, cardiovascular system, eyes, and skin.
Causes, incidence, and risk factors:
Marfan syndrome is inherited as an autosomal dominant trait. However, up to 30% of cases have no family history and are so called 'sporadic' cases. In sporadic cases, Marfan syndrome is believed to result from a spontaneous new mutation. The incidence is approximately 2 out of 10,000 people in all ethnic groups.
Marfan syndrome causes skeletal defects typically recognized in a tall, lanky person with long limbs and spider-like fingers (arachnodactyly), chest abnormalities (pectus excavatum or pectus carinatum), curvature of the spine and a particular set of facial features including a highly arched palate, and crowded teeth.
Common eye problems are nearsightedness (myopia), and dislocation of the lens of the eye.
The most significant of the defects in the syndrome are cardiovascular abnormalities, which may include enlargement (dilatation) of the base of the aorta (aortic root), with aortic regurgitation, and prolapse of the mitral valve. Affected people may develop a dissecting aortic aneurysm.
Symptoms:
- Family history of Marfan's syndrome
- Long, lanky frame
- Long, thin limbs
- Armspan significantly greater than body height
- Long, spidery fingers (arachnodactyly)
- Funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)
- Scoliosis
- Visual difficulties
- Flat feet
- Learning disability/school problems
- Thin, narrow face
- Micrognathia (small lower jaw)
- Coloboma of iris
- Hypotonia
Signs and tests:
Physical examination may show:
- Joint laxity (hypermobile joints)
- Myopia
- Dislocation of lens (ectopia lentis)
- Malformed cornea (flat)
- Blue sclera
- Retinal detachment
There may also be signs of:
- Dilated aortic root
- Aortic regurgitation
- Dissecting aortic aneurysm
- Mitral valve prolapse
Other aortic aneurysms (thoracic or abdominal)
Other sites
Living With Marfans - This is an information and support group.
Marfan association UK - marfan association website and community forum
Marfan Support and Information in NSW - Marfan site based in australia. Run by Trudy
www.healingwell.com - Features health articles, medical news, doctor-produced video webcasts, community message boards and chat rooms, professional healthcare resources, email, newsletters, books and reviews, and resource directories on diseases, disorders and chronic illness
The Marfan Trust was set up in November 1988 to fund research into the cause and possible prevention of Marfan Syndrome and to assist with patient support. The Trust has already funded a research fellow who made a major contribution to the discovery of the gene on chromosome 15 responsible for this disease; a research nurse, who worked on a project regarding pregnancy-associated risks in Marfan Syndrome women; and seven students working for higher degrees who have helped to discover gene mutations in U.K. patients, which were contributed to the international gene map.
Vickys Marfan site