...Marfan Syndrome: A Brief Overview Abstract This paper will discuss the etiology and pathology of Marfan syndrome. It will also explore the signs and symptoms of the genetic disorder. Finally, it will discuss some of the available treatments, quality of life and prognosis of some one affected by Marfan syndrome. Marfan Syndrome: A Brief Overview Marfan syndrome was first described in 1896 by a French pediatrician by the name of Antoine Marfan (1858-1942). Marfan syndrome is a genetic disorder that affects the connective tissue in the body. The three main body systems that Marfan syndrome attacks are they eyes, bones and muscles, and the cardiovascular system. Marfan syndrome is also known as arachnodactyly in Greek and translates to “spider-like fingers” because of the elongated bones in the hands and fingers. Marfan syndrome is caused by a mutation on chromosome 15 that affects the production of fibrillin. Fibrillin is a protein that is responsible for allowing tissues to stretch repeatedly with out weakening. With this fibrillin defect, people with Marfan syndrome have hypermobility in their joints causing them to become weak and very loose. Another characteristic of Marfan syndrome is that some patients have excessively long limbs with an arm span greater than their height. The external affects of Marfan syndrome very greatly even with patients in the same family. The severity of Marfan syndrome is different from person to person. According to Rebecca J. Frey’s...
Words: 1196 - Pages: 5
...Marfan syndrome is a heredity disorder of connective tissue, resulting in abnormally long and thin digits and also frequently in optical and cardio defects, because connective tissue is found through the body, Marfan syndrome can affect many different parts of the body. This disorder is usually found in the heart, blood vessels, bones, joints, and eyes. This syndrome is caused by a defect, or mutation, in the gene that determines the structure of fibrillin-1. This is a protein that is an important part of connective tissues. Someone whom is born with Marfan syndrome is may not show signs or symptoms till later in life (Little). Some of the traits that are found in someone who has Marfan syndrome are: a tall and slender build, long arms, legs, finger, and toes that are all disproportionate, check that either dips in or protrudes outward, crowded teeth, heart murmurs, extreme nearsightedness, an abnormally curved spine, and flat feet (Lu). According to the National Marfan Foundation, 1 in every 5,000-7,000 babies born will be a child born with Marfan syndrome. Seventy-five percent of people with Marfan syndrome will more than likely have an affected parent. Some of the treatments for Marfan syndrome include: surgery, medicines, and heart treatments. Beta blockers is a medicine that is used to help your heart beat slower with less force, and this is one of the medicines that are commonly used to help someone who had Marfan syndrome. This syndrome can cause you aorta to stretch, and...
Words: 654 - Pages: 3
...Those with Marfan Syndrome are often abnormally tall, have pronounced sternums, and possess abnormally long limbs and fingers (6). The physical features, while undoubtedly difficult to live with, are not particularly dangerous. Often, what ends up killing a victim of Marfan Syndrome are aortic aneurysms or aortic dissections. The former is an elastic bulge in the lining of the aorta, an important artery which extends directly from the heart to feed oxygen to the brain, upper body, and finally lower body. The latter is a painful and usually fatal breaking of the aorta, which results in a horrible tearing sensation throughout the bodies of its doomed sufferers. Both dangers are caused by the molecular properties of Marfan Syndrome. Specifically,...
Words: 878 - Pages: 4
...------------------------------------------------- MARFAN SYNDROME ------------------------------------------------- BY MELISSA STEVENS May 22, 2014 southeastern college Abstract Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. There is no cure for Marfan syndrome. To develop one, scientists may have to identify and change the specific gene responsible for the disorder before birth and medical research has not yet evolved to the point of cure. People with Marfan tend to be unusually tall, with long limbs and long, thin fingers. Marfan syndrome has various expressions ranging from mild to severe: the most serious complications are defects of the heart valves and aorta. Additionally, it may affect the lungs, eyes, dural sac surrounding the spinal cord, the skeleton, and the hard palate. This makes it very important for people with Marfan syndrome and related disorders to receive accurate, early diagnosis and treatment. Without it, they can be at risk for potentially life-threatening complications. The earlier some treatments are started, the better the outcomes are likely to be. The appropriate specialists will develop an individualized treatment program; the approach the doctor’s use depends...
Words: 1540 - Pages: 7
...Marfan syndrome Marfan syndrome is an inherited disorder of the connective tissue that causes abnormalities of a person eyes, cardiovascular system, and musculoskeletal system. It is named for the French pediatrician, Antoine Marfan (1858-1942), who first described it, in 1896 [1]. Marfan syndrome affects three major organ systems of the body, the first is the heart and circulatory system, second is the bones and muscles, and finally the eyes. The mutation is responsible for the production of the fibrillin, which is a protein that is an important part of connective tissue. Fibrillin is the primary component of the micro fibrils that allow tissues to stretch repeatedly without weakening. Because the fibrillin is abnormal, connective tissues are looser than usual, which weakens or damages the support structures of the entire body [2]. Common external signs associated with Marfan syndrome include excessively long arms and legs, with the arm span being greater than the person’s height. The fingers and toes may be long and slender, with loose joints that can be bent beyond their normal limits. This unusual flexibility is called hypermobility. The face may also be long and narrow, and may have a noticeable curvature of the spine. May also have unexplained stretch marks or dislocated lens in the eyes [3]. It is estimated that in the United States alone, about 200,000 people are affected with Marfan syndrome and other connective tissue disorders [3]. When a parent has a mutated...
Words: 323 - Pages: 2
...Table 1 shows the different disorders that may overlap with Marfan Syndrome because of their clinical features. It is therefore important that all these clinical manifestations are ruled out before diagnosing an individual of a potential disorder. A disorder that overlaps mostly with the many features of the Marfan syndrome is Loeys-Dietz syndrome (LDS) as a result of mutations in TGFBR2, TGFBR1, SMAD3 and TGFB2.4 Patients with LDS present with malar hypoplasia, arched palate, scoliosis, dural ectasia, aortia aneurysms and dissections.2 Although they have long finger, bone overgrowth is often absent and does not show ectopia lentis.2 Distinctive features include high frequency hypertelorism learning disability, congenital heart disease and...
Words: 1261 - Pages: 6
...To prosect the organs I first bluntly dissect the aorta from the back of the organ block. Next, I detach the aorta from the heart by cutting the aorta at the aortic arch. The aorta is opened longitudinally and the interior examined for atherosclerosis, other pathologies and any medical devices. Then, I cut the esophagus from the larynx and bluntly dissect the esophagus away from the organ block, leaving it attached to the stomach. Next, the spleen is detached, weighed and serially sectioned perpendicular to the long axis. Next, I locate the kidneys and remove them from their capsule. I make sure to comment on how the capsule removes from the external surface of the kidney. I then weigh each kidney and bivalve them. Each kidney is serially section perpendicular to the long axis and any pathology is noted. Next, I locate the adrenals by palpation and remove them. After the adrenal glands are removed, they are each weigh and serially section perpendicular to the long axis. Next, the lungs are separate from the great vessels of the heart and the primary bronchi. Then each lung needs to be weighed and the bronchial tree opened. The bronchi are examined for any masses or foreign material. The lungs are then serially sectioned perpendicular to the long axis. The parenchyma needs to be examined and any pathology documented. Next, the thyroid is removed and each lobe serially sectioned. Following the removal and sectioning of the thyroid, the larynx is opened longitudinally along its...
Words: 923 - Pages: 4
...differences and similarities I will talk about what these two diseases are. According to Marfan foundation, Marfan syndrome “is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grows and develops properly.” The connective tissue is made up of proteins. The protein of the tissue is called fibrillin-1. It is found in 1 out of 1,500 people. It can be found in male and female and in all races. It is in inheritable 3 out of 4 people inherit Marfan syndrome. Cystic Fibrosis is because of a defective gene that causes a thick, buildup of mucus in the lungs, pancreas and other organs. In...
Words: 960 - Pages: 4
...I bleed into the line. I honestly thought the PA did something incorrect. However, it happened again with my second treatment. Then I began bleeding at home. About two weeks ago I found a graphic that talked about bruising with Ehlers- Danlos Syndrome. The light blub when off. I asked around if an individual could bleed with it and they can. "Ehlers- Danlos Syndrome is a collection of inherited conditions that fit into a larger group, known as heritable disorders of connective tissue. Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs, and bones. Ehlers-Danlos Syndrome is known or thought to alter the biology of collagen in the body (the most abundant protein), which can lead to multi-systemic symptoms." The main types of EDS are as follows Hypermobility, Classical, Vascular, Kyhoscoliosis, Arthrochalasia, and Dermatosparaxi. I e-mailed my one doctor who to my surprise agreed that this is an excellent theory to explain the missing puzzle piece. Unfortunately, I won't know for certain until March, which is when I see the...
Words: 724 - Pages: 3
...Ehlers Danlos Syndrome Ehlers-Danlos syndrome (EDS) is a rare genetic inherited syndrome. Ehlers-Danlos syndrome affects the connective tissues, which provide support to the skin, bones, blood vessels, and other organs of the body. There are six types of EDS hyper mobility, classical, vascular, kyphoscoliosis, arthrochalasia, and dermatosparaxis. Some types are so severe that people can’t participate in any sport activities or any physical activity. The two major types of EDS are Classical EDS and Hyper mobile EDS. These two types make up 90% of all EDS cases. Eduard Ehlers, a Danish physician, and Henri-Alexandre Danlos, a French physician, first described EDS. I chose Ehlers Danlos syndrome because I have it and wanted to learn a little bit more about it. I also wanted to see if there are any nutritional things I can do to improve my condition. I was diagnosed with EDS when I was 15. I kept dislocating my shoulder and was in a lot of pain, so I went and got an MRI. It turned out I didn’t have a tear, the doctor sent me to get tests done to see if I had EDS. I went through the physical tests and blood samples and found out I had Hyper mobility EDS. The symptoms of hyper mobility EDS are: chronic dislocations, easily bruised, stretchy skin, joint pain. Another symptom of this type of EDS is subject to frequent injury, week bones and chronic fractures. After hearing all of this it made sense since I have all of those symptoms. Ehlers Danlos Syndrome is a new disease that...
Words: 631 - Pages: 3
...Ehlers-Danlos syndrome (Stretchy Skin Disease) Ehlers-Danlos Syndrome, also known as Stretchy Skin Disease is a connective tissue disorder that is inherited. There are several types of Ehlers-Danlos syndrome ranging from mild to life threatening (Ehlers-Danlos syndrome, 2006). According to NCBI, this disease is characterized by hyperextensibility of the skin, joint hypermobility, weakness of tissue, and rupture in arteries. People with this disease have a deficiency in collagen causing the skin, muscles and joints to not hold firm. Signs & Symptoms * Double-Jointedness, joint popping, joint dislocation, congenital hip dislocation * Easily damaged, bruised or stretchy skin, poor wound healing * Chronic joint pain * Very soft and velvety skin, very stretchy skin, fragile * Vision problems, deformed surface of the eye, crossed eyes * Weak internal organs Most Ehlers-Danlos syndrome types affect the joint tissue and skin; a couple other types affect the same, including fragile blood vessels that affecting the internal organs. Complications * Premature rupture of membranes, rupture of intestines, uterus or eyeballs * Periodontitis * Mitral valve prolapse * Failure of surgical wounds properly healing * Early-onset arthritis Treatment/Maintenance Currently there is no cure for Ehlers-Danlos syndrome, only management. It is important that each person establish a network of clinical physicians who are very familiar with the...
Words: 652 - Pages: 3
...Postural • Mb Scheurmann • Marfan • Congenital • Ankylozing Spondylitis • Post traumatic Symptoms In addition to an abnormally curved spine, kyphosis can also cause back pain and stiffness in some people. Mild cases of kyphosis may produce no noticeable signs or symptoms. When to see a doctor Make an appointment with your doctor if you notice an increased curve in your upper back or in your child's spine. The individual bones (vertebrae) that make up a healthy spine look like cylinders stacked in a column. Kyphosis occurs when the vertebrae in the upper back become more wedge-shaped. This deformity can be caused by a variety of problems, including: • Osteoporosis. This bone-thinning disorder can result in crushed vertebrae (compression fractures). Osteoporosis is most common in older adults, particularly women, and in people who have taken high doses of corticosteroids for long periods of time. • Disk degeneration. Soft, circular disks act as cushions between spinal vertebrae. With age, these disks dry out and shrink, which often worsens kyphosis. • Scheuermann's disease. Also called Scheuermann's kyphosis, this disease typically begins during the growth spurt that occurs before puberty. Boys are affected more often than are girls. The rounding of the back may worsen as the child finishes growing. • Birth defects. If a baby's spinal column doesn't develop properly in the womb, the spinal bones may not form properly, causing kyphosis. • Syndromes. Kyphosis in children can also...
Words: 771 - Pages: 4
...Cri du chat, also known as “Cat’s Cry” syndrome or 5p- (5 p minus) syndrome occurs when there is a deletion in chromosome 5 (Genetics Home Reference). According to the Genetics Home Reference website, most cases of Cri du Chat are not inherited. The deletion occurs randomly during production of reproductive cells or in early development. People with Cri du Chat most often have no familial history of the disease. Only about ten percent of the cases of Cri du Chat are inherited from unaffected parents. Most of the time in this situation, the parent’s chromosome is rearranged. The material is not gained or lost, but is located on different parts of the chromosome. So, when the material is moved to create gametes or chromosomes in a developing...
Words: 1343 - Pages: 6
...Prader-Willi Syndrome is a genetic disorder that affects chromosome number fifteen. Some of the common signs of this syndrome are obesity, eyes with narrower shape, small hands, feet and stature. Often the muscle tone is decreased and as a consequence motor development is delayed. Individuals affected usually have mild learning disabilities and only a small portion have average or above average IQs. Their long term memory is stronger and efficient than their short term memory. Most students with Prader-Willi Syndrome have difficulty working with numbers and calculations. They usually perform better when working with reading, writing, drawing, and when working with technology. Behavior issues are directly associated with the syndrome as well...
Words: 749 - Pages: 3
...Cat eye syndrome is a genetic condition , a way to describe it is to say that it is an abnormality in chromosome 22. It can lead to a coloboma of the iris witch is how it got its name . The eyes look cat-like but work the same as a normal human . Cat eye syndrome or “Schmid Fraccaro syndrome” is a rare condition caused by the short arm and a small section of the long arm of human chromosome 22 being present three (trisomic) or four times (tetrasomic) instead of the usual two times. The name “cat eye syndrome” is derived from a distinctive eye (ocular) abnormality that is present in a little over half affected individuals. Most cases of eye cat syndrome are not hereditary , the condition generally occurs even during the formation of...
Words: 909 - Pages: 4
