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What are common external signs of Marfan syndrome?
GaleEncyofMedicine
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.
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∙ 13y ago
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What variance is there in the external signs of Marfan syndrome?
It is important to note, however, that Marfan patients vary widely in the external signs of their disorder and in their severity; even two patients from the same family may look quite different.
What other name is Marfan syndrome known by?
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.
Does marfan syndrome affect the aorta?
Yes. Marfan syndrome is a congenital disorder affecting the formation of fibrillin. In Marfan syndrome, the abnormal fibrillin is responsible for many of the findings of the disease. Hyperextensibility/hyperelasticity of joints is one of the hallmark signs. Pectus excavatum is another. People with Marfan syndrome are typically very tall and thin, with very long fingers and toes (arachnodactyly). The fibrillin defect also affects the blood vessels, especially the large arteries, such as the aorta. Disordered fibrillin production causes these arteries to be weaker than normal, predisposing patients with Marfan syndrome to aortic dissections and rupture. This the major cause of death for patients with Marfan syndrome.
A dominant trait of marfan syndrome?
35 different signs are seen in Marfan syndrome. Most are visible signs associated with the skeletal system. Many grow to above-average height with having long, slender limbs with long fingers and toes. The most deaths involve the cardiovascular system. This gene is dominant. If one parent has it, there is a 50/50 chance that an offspring will have it. Abraham Lincoln was once thought to have had this, but no longer.
What should Marfan syndrome patients know about retinal detachment?
All persons with Marfan should be taught to recognize the signs of retinal detachment (sudden blurring of vision in one eye becoming progressively worse without pain or redness) and to seek professional help immediately.
Why may a diagnosis of Marfan syndrome be missed?
In many cases, the patient may have few or very minor outward signs of the disorder, and the diagnosis may be missed until the patient develops vision problems or cardiac symptoms.
What is the genetic cause of Marfan syndrome?
Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, the walls of blood vessels, and heart valves. It is caused by a mutation in fibrillin, which decreases fibrillin production and increases TGF-B production. 90-95% of people with Marfan syndrome are able to identify their mutation on FBN1. The other 5-10% may have a mutation on another gene that affects the production of fibrillin which we have not yet discovered. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Affected individuals often are tall (as compared to unaffected family members) and slender, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds their body height. Other common features include unusually flexible joints, a long and narrow face, a highly arched roof of the mouth, crowded teeth, an abnormal curvature of the spine (scoliosis), and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). About half of all people with Marfan syndrome have vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes, and most have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur early on, even in childhood, and increased pressure within the eye (glaucoma) occurs more frequently in people with Marfan syndrome than in those without the condition.
Who discovered the Marfan Syndrome?
Antione B. MarfanMarfan syndrome was first described by a French doctor named Antione B. Marfan, who reported that one of his patients, Gabrielle, had especially long fingers (he called this arachnodactyly, or spider-fingers), skeletal abnormalities (including arms that were disproportionately long), and high, arched pallets. He also noticed spine defects. Antione noted that these traits seemed to be inherited, and it is now certain that Marfan syndrome is a hereditary disorder, and the gene for it is autosomal dominant A dominant gene is one that will overwrite other genes so that only one is required for the trait that that particular gene carries to be expressed. A person who inherits a dominant gene from one parent will automatically have the trait that the gene produces, unlike with recessive genes in which a gene for the trait must be inherited from each parent for the trait to show. Autosomal means that the gene is on a non-sex chromosome. There are 46 chromosomes in every human cell, and they make 23 pairs, each one connected by a centrome. The 23rd pair consists of the sex chromosomes.The gene for Marfan syndrome is located on chromosome fifteen. This gene causes the occurrence of too many microfibrillar fibers in the connective tissue, which results in a lack of flexibility in the body's tissues.Marfan syndrome almost always occurs as an inherited trait (about 75% of the time), but it can sometimes show up spontaneously in a person from a family that has never shown any signs of the disorder. Marfan syndrome, because it is dominant, will not skip generations (a recessive gene can be passed on without showing up for many generations, because two are needed for the trait to show, but if a dominant gene is going to show up, it will do so right away). Marfan syndrome has a 50% chance of being passed on to the children of an affected person. If the gene for Marfan syndrome is passed on, it will invariably show up, but the degree to which it shows its symptoms varies considerably, even within a family.Skeletal abnormalities that have been noticed in Marfan patients are a long face, an unusually tall stature, a short upper body in comparison to the lower body (because they have a short ribcage), and overgrown ribs. The latter results in chest deformities such as Pectus Excavatum (funnel chest) or Pectus Carnatum (pigeon breast). A wide pelvis, elongated skull, and prominent shoulder blades are other symptomsOne of the most distinctive characteristics of Marfan's Syndrome is unusually long arms, fingers, and toes. These skeletal problems can show up in either childhood or adolescence, and sometimes they do not show up at all Extremely mobile joints are another common characteristic.A good many patients have eye problems, like dislocated lenses, severe nearsightedness, iridodensis (a quivering motion of the iris), cataracts, detaching retinas, and glaucoma.The life-threatening risk to Marfan syndrome is that the aorta can grow to be too large, develop weak spots (aneurysms) and then tear (dissect). Without surgery, a person can die.People with Marfan's Syndrome often suffer from various lung problems as well.For more information www.marfan.org
What are the warning signs of irritable bowel syndrome?
Diarrhea, upset stomach are often warning signs of Irritable bowel syndrome. Constipation is another warning sign of Irritable bowel syndrome.
Which president was thought to have acromegaly?
John F Kennedy? Abraham Lincoln is thought to have suffered from Marfan's Syndrome, acromegaly, which is an adrenal disorder connected with what sometimes is called "gigantism". John Kennedy had adrenal disorders but he did not exhibit signs of acromegaly. Cushings disease has been mentioned in books about Kennedy.
Is it true a syndrome can be observed only by the patient and not by others?
A syndrome is a collection of signs and symptoms. Those signs and symptoms can be observed by the patient or an outside observer.
Is it true that a syndrome can be observed only by the patient and not by others?
A syndrome is a collection of signs and symptoms. Those signs and symptoms can be observed by the patient or an outside observer.
