Marfan Sydrome

Yes, Marfan syndrome does affect the life span of a human. It is shown that their life span is cut on average by one third.

Marfan syndrome is an autosomal dominant condition caused by a genetic mutation. The mutation occurs on chromosome 15 and affects the gene that encodes a protein called fibrillin-1. Over 100 mutations have been described, all of which impair the function of fibrillin-1.

The precise reasons for the mutations are unknown. How the mutation manifests as the Marfan syndrome is also uncertain. There is mounting evidence that the fibrillin-1 defect allows for unabated activity of transforming growth factor-beta (TGF-beta), which causes the clinical manifestations of the syndrome (eg, hyperextensible joints, arachnodactyly, dislocation of the lens, aortic aneurysm).

Because the condition is inherited in an autosomal dominant pattern, a parent with Marfan syndrome has a 50% chance of passing the defective gene on to his/her offspring.

Some diseases are also associated with features that resemble Marfan syndrome. For example, multiple endocrine neoplasia (MEN) type III is associated with what's been called a marfanoid habitus -- patients commonly have the elongated axial bones and hyperextensible joints seen in true Marfan syndrome. MEN-III is caused by a mutation in the RET gene on chromosome 10. It is inherited in an autosomal dominant pattern.

Recent advances in Marfan syndrome treatment have prolonged the life expectancy of patients considerably. Changes in how the syndrome is treated, including medication, surgical interventions, and monitoring for complications of the syndrome (eg, aneurysms), are all responsible for the increase in life expectancy. The prolongation in life expectancy can be seen by taking a look at statistics from 1972, in which the life expectancy was 32 years, and from 1996, where patients with Marfan syndrome had a life expectancy of 61 years.

The cost of treatments for Marfan Syndrome can vary depending on factors such as the specific treatments needed, healthcare providers, insurance coverage, and geographic location. Treatment may include medications, monitoring, surgeries, and ongoing specialist care. It's best to consult with a healthcare provider and insurance company for a personalized cost estimate.

It is unsure, whether he did or did not. There is too little information from him, to find out exactly. Chances are he did not, and had some other disease.

No, Marfan Syndrome is an inherited disorder of connective tissue. It is not an infectious disease.

Marfan's syndrome is a genetic condition that effects the connective tissues. These people tend to be very tall with extra long limbs. Some famous people who have the syndrome include Vincent Schiavelli, Bradford Cox, and John Taverner. Abraham Lincoln is suspected to have had the condition.

Yes. Marfan syndrome is found equally in all ethnic groups.

Marfan syndrome is found in 1 in every 5,000 - 10,000 births. If one of your parents has Marfan syndrome, you have a 50% chance of having Marfan syndrome.

Yes. Marfan syndrome is a connective tissue disorder (gene mutation on chromosome 15) that affects the integrity of elastic fibers. The aorta has a large amount of elastin. Therefore, an aortic dissection (tear) is more probable in a person with Marfan syndrome and a dissection is often fatal. Regular checkups by a cardiologist are needed to monitor the health of the heart valves and the aorta.

The most important single factor in improving the patient's prognosis is early diagnosis. The earlier that a patient can benefit from the new techniques and lifestyle modifications, the more likely he or she is to have a longer life expectancy.

The examination should include an echocardiogram taken by a cardiologist, a slit-lamp eye examination by an ophthalmologist, and a work-up of the patient's spinal column by an orthopedic specialist.

Marfan syndrome affects three major organ systems of the body: the heart and circulatory system, the bones and muscles, and the eyes.

Marfan syndrome is sometimes called arachnodactyly, which means "spider-like fingers" in Greek, since one of the characteristic signs of the disease is disproportionately long fingers and toes.

Arachnodactyly-- A condition characterized by abnormally long and slender fingers and toes.

It affects the connective tissue

Similarly, there is no reliable prenatal test, although some physicians have used ultrasound to try to determine the length of fetal limbs in at-risk pregnancies.

Patients with Marfan should have a thorough eye examination, including a slit-lamp examination, to test for dislocation of the lens as well as nearsightedness.

After a person has been diagnosed with Marfan, he or she should be monitored with an echocardiogram every six months until it is clear that the aorta is not growing larger. After that, the patient should have an echocardiogram once a year.

There is, however, some clinical evidence that children with Marfan have a slightly higher rate of hyperactivity and attention-deficit disorder (ADD) than the general population.

The most common external signs associated with Marfan syndrome include excessively long arms and legs, with the patient's arm span being greater than his or her height.

A pregnant woman with Marfan should also receive genetic counseling regarding the 50% risk of having a child with the syndrome.

The patient's face may also be long and narrow, and he or she may have a noticeable curvature of the spine.