Marfan's Syndrome?

Question

I have very long fingers, very slender and flexible. I'm also the tallest in my family. But my chest looks very normal and my spine is not deformed. In short, the hands are the only things that seem like of those who have Marfan's syndrome. My heart is OK. But I have very bad myopia. No one in my family is known to have worse symptoms. What is the possibility that I can get it? Where can I get my genetic test? How much does it cost?

Answer 1

Marfan syndrome is caused by a single gene for fibrillin on chromosome 15, which is inherited in most cases from an affected parent. Between 15 and 25% of cases result from spontaneous mutations. Mutations of the fibrillin gene (FBNI) are unique to each family affected by Marfan, which makes rapid genetic diagnosis impossible, given present technology. The syndrome is an autosomal dominant disorder, which means that someone who has it has a 50% chance of passing it on to any offspring. Another important genetic characteristic of Marfan syndrome is variable expression. This term means that the mutated fibrillin gene can produce a variety of symptoms of very different degrees of severity, even in members of the same family.

Presently, there is no objective diagnostic test for Marfan syndrome, in part because the disorder does not produce any measurable biochemical changes in the blood or body fluids, or cellular changes that could be detected from a tissue sample. Although researchers in molecular biology are currently investigating the FBNI gene through a process called mutational analysis, it is presently not useful as a diagnostic test because there is evidence that there can be mutations in the fibrillin gene that do not produce Marfan. 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.
The diagnosis is made by taking a family history and a thorough examination of the patient's eyes, heart, and bone structure. 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. In terms of the cardiac examination, a standard electrocardiogram (EKG) is not sufficient for diagnosis; only the echocardiogram can detect possible enlargement of the aorta. The importance of the slit-lamp examination is that it allows the doctor to detect a dislocated lens, which is a significant indication of the syndrome. The symptoms of Marfan syndrome in some patients resemble the symptoms of homocystinuria, which is an inherited disorder marked by extremely high levels of homocystine in the patient's blood and urine. This possibility can be excluded by a urine test. In other cases, the diagnosis remains uncertain because of the mildness of the patient's symptoms, the absence of a family history of the syndrome, and other variables. These borderline conditions are sometimes referred to as marfanoid syndromes.

Answer 2

One of the extra enduring theories approximately President Lincoln's wellness arose within the early Sixties. A health practitioner released a paper in 1964 within the Journal of the American Medical Association which recounted that President Abraham Lincoln had Marfan syndrome, a connective tissue sickness. The prognosis was once established on bodily observations of Lincoln: the truth that he was once a lot taller than so much guys of his day had lengthy limbs had an abnormally-formed chest (sunken in) had free (lax) joints (established on written descriptions) Since then, different physicians have disputed a prognosis of Marfan syndrome for Lincoln. Some have argued that President Lincoln's arms didn't have lengthy, skinny hands, a usual discovering in folks with the syndrome. At a systematic workshop held in October 2001 in Cairo, Egypt, the scientists amassed there felt that there was once no longer adequate clinical proof to be had to surely diagnose President Lincoln with the sickness.

Answer 3

I had friends with Marfan's Syndrome, it was a mother and a daughter. Apparently it is a congenital disease that is almost always passed down from a family member. So, I wouldn't worry too much. But abnormally long fingers and toes as well as abnormal height are all characteristics of people with Marfan's. I believe the testing for it involves a series of x-rays and measuring of certain body parts, but I would go to a specialist for it as Marfan's is difficult to diagnose. I am sorry I have no idea of the cost. I hope this helps.

Answer 4

I am a Marfan's patient, but I'm not a typical Marfan's patient. I'm only 5'7 & 1/2", and skinny-though I do have a slight frame. I have the long slender fingers. Marfan's effects my ligaments-which are loose. I also don't seem to have the heart problems. My brother has it, and it has effected his spine (had spine surgery) and chest (had chest surgery). I know you are asking why am I telling you this. Simple no one else in my family has it, I have met a couple other people who don't have family members who have it, or are not the typical Marfan's patient.

My suggestion to you is to contact your doctor with you concerns, and try to get a referal from you doctor to see a genetist. Good luck!

Answer 5

Call the County Medical Society and ask them for a referral to a genetics counselor, usually through either the State or County. Genetic testing is not cheap but there are "paper" evaluations through family pictures and interviews that leads the counselor to suggest or not recommend genetic testing.

Why did you pick Marfan's if the family has not been evaluated for the symdrome? Perhaps long slender fingers are just a family trait and not a sign of something genetic.