Marfan syndrome is a genetic disorder that causes people to have unusually long arms, legs and fingers. Your doctor may want to measure your arm span if he or she thinks you might have the disorder.
The expected lifespan of a person with Marfan syndrome used to be around the mid-40s age group, but now extends into the 70s – which is comparable to the general population. This improved lifespan is mainly due to: improved awareness of Marfan syndrome across health professionals.
Marfan syndrome is caused by a mutation in a gene called FBN1. The mutation limits the body's ability to make proteins needed to build connective tissue.
In more recent times, Olympic swimmer Michael Phelps, basketball prospect Isaiah Austin and, perhaps, al-Qaeda leader Osama bin Laden had Marfan syndrome.
People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes.
Marfan syndrome does not affect intelligence.
Marfan syndrome is a congenital condition, meaning a person has it from birth. Physical signs sometimes present in infancy but more often show up later in childhood or adolescence. Marfan syndrome affects approximately 200,000 people in the United States; both men and women of any race or ethnic group may be affected.
Marfan syndrome (MFS) is a connective tissue disorder affecting the cardiovascular, ocular, and skeletal system, which may be accompanied by psychological features.
About 90% of people with Marfan syndrome develop changes in their heart and blood vessels. Changes that can develop include: Aortic aneurysm. The walls of the aorta, the major artery that carries blood from the heart to the rest of your body, become weak, bulge out and could rupture (burst).
Signs and Symptoms
Marfan syndrome affects approximately 1 in 5,000 people, and includes men and women of all ethnic groups. The signs and symptoms manifests differently between individuals, and can take many years to develop. Some features include tall stature, long fingers, flexible joints, or high arched palates.
Background: It is clinically widely overlooked that many patients with Marfan- (MFS) or Loeys-Dietz-Syndrome (LDS) are obese.
Knowing the signs of Marfan syndrome can save lives. People are born with Marfan syndrome but they may not notice any features until later in life and some of these features can appear at any age. Some people have many characteristics at birth or as young children.
Major symptoms include overgrowth of the long bones of the arms and legs, abnormal side-to-side curvature of the spine (scoliosis), indentation or protrusion of the chest wall (pectus deformity), dislocation of the lenses of the eyes (ectopia lentis), nearsightedness (myopia), widening (aneurysm) and tear (dissection) ...
Patients with Marfan syndrome have a higher chance of having certain eye conditions. Many people with Marfan syndrome will need glasses because they will develop myopia (nearsightedness) or have astigmatism (abnormal curvature of the eye).
Children and young people may also display some behavioural and emotional problems and low self-esteem. They may suffer bullying or teasing at school if they have strong Marfanoid characteristics. They may additionally internalise their worries, resulting in withdrawal, physical complaints, anxiety and depression.
Many people with Marfan syndrome and some related disorders have narrow jaws and high-arched palates, which can create dental and orthodontic problems.
For people with Marfan syndrome active sports such as track, basketball, baseball, volleyball, football, and strenuous activities such as heavy lifting should be avoided because they cause additional heart strain.
We evaluated the neurodevelopmental status and cognitive ability of 30 school-age children with Marfan syndrome. We found average intellectual (mean full scale IQ = 109.3) and gross motor development.
Marfan syndrome (MFS) is a connective tissue disorder inherited in an autosomal dominant fashion. Up to 25% of MFS patients have a de novo mutation. Prevalence is 1 in 5000 individuals, affecting both sexes equally [1].
Many people with Marfan syndrome have difficulty gaining weight, especially when they are younger, no matter how much they eat and how many protein shakes they consume.
Genetic testing is often used to confirm the diagnosis of Marfan syndrome.
The defective fibrillin gene also causes some bones to grow longer than they should. This means a person with Marfan syndrome may be tall because their arms and legs grow longer than normal.
Not all tall people have Marfan, but those who have it generally are much taller than average.
IQ test experts estimate his IQ was somewhere between 160 and 180, which is quite high. Some people estimate his IQ was just over 200, hovering around 205. However, 160-180 is the more commonly estimated range. Only one in over 11,000 people score a 160, and only one in every 3.5 million people score a 180.