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The face and spine of a Marfan syndrome may have what appearance?
GaleEncyofMedicine
The patient's face may also be long and narrow, and he or she may have a noticeable curvature of the spine.
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∙ 13y ago
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What effect can the Marfan's syndrome have on you?
Some of the effects on a person with Marfan's syndrome might be that they would have bad eyesight, they would be abnormally tall (7ft), they might also have a long face and loose joints.
Is there any benefit from being a carrier of Marfan Syndrome?
No, it is an abomination located on the 17th chromosome. IMO there should be a culling to remove it from the face of this planet. I have Marfan Syndrome and it's horrendous. I fear having children purely because i would hate to pass this mutation onto them.
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.
What are the symptoms of marfan syndrome?
Marfan syndrome affects different people in different ways. Some people have only mild symptoms, while others are more severely affected. In most cases, the symptoms progress as the person ages. The body systems most often affected by Marfan syndrome are:Skeleton--People with Marfan syndrome are typically very tall, slender, and loose jointed. Since Marfan syndrome affects the long bones of the skeleton, arms, legs, fingers, and toes may be disproportionately long in relation to the rest of the body. A person with Marfan syndrome often has a long, narrow face, and the roof of the mouth may be arched, causing the teeth to be crowded. Other skeletal abnormalities include a sternum (breastbone) that is either protruding or indented, curvature of the spine (scoliosis), and flat feet.Eyes--More than half of all people with Marfan syndrome experience dislocation of one or both lenses of the eye. The lens may be slightly higher or lower than normal and may be shifted off to one side. The dislocation may be minimal, or it may be pronounced and obvious. Retinal detachment is a possible serious complication of this disorder. Many people with Marfan syndrome are also nearsighted (myopic), and some can develop early glaucoma (high pressure within the eye) or cataracts (the eye's lens loses its clearness).Heart and blood vessels (cardiovascular system)--Most people with Marfan syndrome have abnormalities associated with the heart and blood vessels. Because of faulty connective tissue, the wall of the aorta (the large artery that carries blood from the heart to the rest of the body) may be weakened and stretch, a process called aortic dilatation. Aortic dilatation increases the risk that the aorta will tear (aortic dissection) or rupture, causing serious heart problems or sometimes sudden death. Sometimes, defects in heart valves can also cause problems. In some cases, certain valves may leak, creating a "heart murmur," which a doctor can hear with a stethoscope. Small leaks may not result in any symptoms, but larger ones may cause shortness of breath, fatigue, and palpitations (a very fast or irregular heart rate).Nervous system--The brain and spinal cord are surrounded by fluid contained by a membrane called the dura, which is composed of connective tissue. As people with Marfan syndrome get older, the dura often weakens and stretches, then begins to weigh on the vertebrae in the lower spine and wear away the bone surrounding the spinal cord. This is called dural ectasia. These changes may cause only mild discomfort or may lead to radiated pain in the abdomen or to pain, numbness, or weakness of the legs.Skin--Many people with Marfan syndrome develop stretch marks on their skin, even without any weight change. These stretch marks can occur at any age and pose no health risk. However, people with Marfan syndrome are also at increased risk for developing an abdominal or inguinal hernia where a bulge develops that contains part of the intestines.Lungs--Although connective tissue abnormalities make the tiny air sacs within the lungs less elastic, people with Marfan syndrome generally do not experience noticeable problems with their lungs. If, however, these tiny air sacs become stretched or swollen, the risk of lung collapse may increase. Rarely, people with Marfan syndrome may have sleep-related breathing disorders such as snoring or sleep apnea (a sleep disorder characterized by brief periods when breathing stops).
What are the release dates for Spine Face - 2005?
Spine Face - 2005 was released on: USA: 2005
What disease made Abraham Lincoln's face and hands messed up?
Abraham Lincoln did suffer from Marfan's Syndrome. I don't know that it messed up his face and hands, but it is possible because it does cause stretch marks on the face. Marfans, aside from being tall has a long list of health problems carried with it. He was probably in a lot of pain.
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
Is the face of a Down syndrome infant symmetrical or asymmetrical?
The face of a down syndrome infant is symetrical.
What actors and actresses appeared in Spine Face - 2005?
The cast of Spine Face - 2005 includes: Shelia Regan as Woman 1
What are the signs that suggests a person may have Marfan syndrome?
A chest that sinks in or sticks out.flat feethighly arched palate and crowded teethhypotonia (state of low muscle tone)joints that are too flexiblelearning disabilitymovement of the lens of the eye from its normal positionnearsightednesssmall lower jawspine that curves to one sidethin, narrow face
Do people with Asperger's Syndrome also suffer from face blindness?
Some, but not all, people with Asperger's Syndrome (AS) suffer from face blindness (prosopagnosia), a condition in which they have difficulty with facial recognition. It is one of the conditions known to occur occasionally with autism and Asperger's Syndrome. Some people with AS have traits that seem similar to face blindness but is not. A person with Asperger's Syndrome who avoids looking at people will have difficulty identifying them by face. A person with Asperger's Syndrome might only look at a person's mouth and not other parts of the face.
How is Velo cardio facial syndrome detected?
Velocardiofacial syndrome (VCFS) is a disorder that has been associated with over thirty different features. The name velocardiofacial syndrome comes from the Latin words "velum" meaning palate, "cardia" meaning heart and "facies" having to do with the face. Velocardiofacial syndrome may also be known as Shprintzen syndrome, DiGeorge syndrome, Craniofacial syndrome or Conotruncal Anomaly Unusual Face Syndrome. Get more information about Velocardiofacial syndrome at http://velocardiofacial-syndrome.blogspot.com Thanks
