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) ...
Tall and thin body build. Arms, legs, fingers and toes that may seem too long for the rest of your body. Curved spine. Scoliosis affects 60% of people with Marfan syndrome.
If you have Marfan syndrome, you are at risk for a life-threatening problem in an important blood vessel in your chest called the aorta. If your aorta is weaker or larger than normal, it is important to know symptoms of a dissection, or rupture.
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.
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.
Some people are only mildly affected by Marfan syndrome, while others develop more serious symptoms.
Individuals with Marfan syndrome may have several distinct facial features including a long, narrow skull (dolichocephaly), deep-set eyes (enophthalmos), an abnormally small jaw (micrognathia) that may be recessed farther back than normal (retrognathia), abnormally flat cheek bones (malar hypoplasia), and an abnormal ...
Interestingly, the final height of males with MFS is almost identical in different countries: 191.2±8.4 cm in France, 191.4±5.2 cm in Korea (9), and 191.3±9.0 cm (8) in the United States. This is true despite the difference in men's final height in each general population (174.4 vs.
The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis ) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta ).
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.
The most life threatening complication of Marfan syndrome is aortic aneurysm which can lead to aortic dissection, rupture or both.
Finally, Marfan syndrome may lead to curvature of the spine, an abnormally shaped chest that sinks in or sticks out, long arms, legs and fingers, flexible joints and flat feet. Because of this, people with the condition are typically taller and thinner in stature.
More Marfan patients reported abdominal pain, diarrhoea, and constipation than controls; however, only symptom of abdominal pain was thought to be statistically significant.
Genetic testing is often used to confirm the diagnosis of Marfan syndrome. If a Marfan mutation is found, family members can be tested to see if they are also affected.
While most cases of Marfan syndrome are inherited, some are due to a spontaneous change in a gene, with no family history. Marfan syndrome can be mild to severe, and may become worse with age, depending on which area is affected and to what degree.
Abraham Lincoln is the most famous American who had Marfan syndrome. So did Julius Caesar and Tutankhamen. In more recent times, Olympic swimmer Michael Phelps, basketball prospect Isaiah Austin and, perhaps, al-Qaeda leader Osama bin Laden had Marfan syndrome.
Many people with Marfan syndrome and some related disorders have narrow jaws and high-arched palates, which can create dental and orthodontic problems.
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.
If your doctor strongly suspects Marfan syndrome, a 29-gene genetic test is performed to look for mutations associated with Marfan syndrome and other genetic conditions that affect the body in a similar way. Genetic testing is done with an at-home saliva test kit or an in-office blood test.
Typically, a person's arm span should be less than their body height; an increased arm span to body height ratio of >1.05 is considered a positive sign for Marfan syndrome.
Other studies have indicated a possible relationship between fatigue and chronic pain for individuals with MFS. In addition, some MFS patients also have psychiatric symptoms such as depression and anxiety.
Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. The lungs, skin, and nervous system may also be affected. Marfan syndrome does not affect intelligence.
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.