Preview

Marfan Syndrome

Good Essays
Open Document
Open Document
835 Words
Grammar
Grammar
Plagiarism
Plagiarism
Writing
Writing
Score
Score
Marfan Syndrome
Do you know that tall, skinny kid that towers over everyone? There might be a genetic disorder to explain why he is like that. Have you ever heard of something called Marfan syndrome or MFS? It is a genetic disorder that about one in every five thousand people have and there is a fifty percent chance that it can be passed on to the next generation ("What Is Marfan Syndrome?"). Marfan syndrome is an abnormal condition characterized by elongation of the bones, and abnormalities in the cardiovascular system and the eyes (Hamilton). Marfan syndrome is a genetic disorder that can be inherited from ancestors and there is a very high possibility that if someone has it, they will pass it down to a future generation("What Is Marfan Syndrome?"). It …show more content…
The most common symptoms of the disorder are tall and slender with an arm span longer than their height. They may also have elongated faces and fingers, crowded teeth, and abnormal curvature of the spine ("What Is Marfan Syndrome?" ). These symptoms may not seem severe, just inconveniences, but the disorder contains many other harmful symptoms. Marfan syndrome can cause vision problems due to dislocated lens in one of the primary symptoms. The other main problem is a defect in the large blood vessel that distributes blood to the entire body ("Marfan Syndrome"). This can lead to other problems such as the aorta weakening and stretching, causing leaks and bulges in the aortic wall ("Marfan Syndrome"). Also, they may have a protruding or sunken chest that may result in abnormal accumulation of air in the chest which could cause a lung to collapse. The main cause of all these symptoms is a disorder in the connective tissues. To diagnose Marfan syndrome, the doctors first look at the patient's family history with the disorder and conduct a physical examination ("What Is Marfan Syndrome?"). They may also conduct other tests such as an MRI to examine the spine and Echocardiogram to look at the heart to see if any of the features of Marfan syndrome were not visible during the physical examination ("What Is Marfan

You May Also Find These Documents Helpful

  • Powerful Essays

    Pt1420 Final Exam

    • 3892 Words
    • 16 Pages

    The basic building block of nucleic acids is the nucleotide. Nucleotides are composed of 3 parts. What are they?…

    • 3892 Words
    • 16 Pages
    Powerful Essays
  • Better Essays

    Genes have an effect on middle childhood development. Everything from height and weight to hair color are determined by genes. While other things such as nutrition do affect whether one will grow to their true potential, genes are the main contributing factor. Genetics can also explain why some children have certain diseases and others do not. Children are resilient and will learn to live with the genetic disorders they may face. It is not only physical disorders that can affect a child, but also cognitive impairment can affect a child as well. Some mental disorders are shown to run in families and can be passed from mother or father to the child.…

    • 1166 Words
    • 5 Pages
    Better Essays
  • Powerful Essays

    by genetic factors such as abnormal genes or inheritance of an abnormal number of chromosomes.…

    • 4666 Words
    • 19 Pages
    Powerful Essays
  • Good Essays

    The name of my disease is Marfan Syndrome. It is also known as Marfan's. Antoine Marfan discovered it in 1896. It's found in both genders, and all ethnic groups. Marfan syndrome is an Autosomal Dominant disorder. 75% of all cases are inherited, 25% are caused by a mutation on the 15th chromosome. Features of Marfan's include unproportional limbs, victims are usually very tall, severe nearsightedness(caused by lens dislocation) lungs have more elasticity, which can result in spontaneous collapsed lungs(pneumothorax), flat feet, high roof of mouth, and others. Victims cannot put much strain on their heart, so they can't persorm many physical activities. They undergo many tests for teh rest of their lives. Marfan's can be described as connective tissue disorder affecting the heart, eyes, lungs, and skeletal muscles. Externally, Marfan's appears to make people natural atheletes, making them very tall, with long arms and legs. Interanlly, it causes fatal heart problems, severe nearsightedness, very flexible joints, and could cause spontaneous pneumothorax. Problems associated with Marfan's are mitral valve prolapse, aortic root dilation, and glaucoma, along with others. Marfan's is very physically limiting for a victim with cardiac symptoms, if too much strain is put on the heart, it could burst. Treatment is possible for Marfan's. A sufferer could be put on beta blockers to slow aortic root dilation or a surgery could replace a weak aorta with a strong one. External symptoms, however, cannot be treated. There is no cure, or therapy, for the disorder. Marfan's can be detected before teh symptoms appear by a DNA sample. It can also be detected prenatally by amniocenteses. There are no carriers of the disease, only victims. Nothing can be done to stop te disease. It is important to continue research because it is a fatal disease, and it lowers the life expectancy of a victim over 30…

    • 306 Words
    • 1 Page
    Good Essays
  • Good Essays

    There are numerous signs and symptoms for this disorder. Within the first year of life, the child may be growing slowing. The motor development and intelligence will remain normal at this time though. The child may have a narrowed face, thin lips, a small jaw, beaked nose. The child with this disorder may have a rather larger head for their face. They will have incomplete closure of eyelids along with prominent eyes. They will have a lot of hair loss of their head, eyelashes, and eyebrows. Their voice may be high pitched, and the veins in their skin will be visible. Their skin may also be spotty or wrinkly and become tight on the trunk. A child with this disease will be slow in growing their teeth and have abnormal teeth formation. They may have a loss of fat under the skin.…

    • 1038 Words
    • 5 Pages
    Good Essays
  • Good Essays

    Beal's Syndrome

    • 527 Words
    • 3 Pages

    Beals syndrome shares skeletal features with MFS such as marfanoid habitus, arachnodactyly, camptodactyly and kyphoscoliosis. However, Beals syndrome patients have crumpled appearance of ear helix and congenital contractures, and do not typically have the ocular and cardiovascular complications seen in MFS. Although the presence of contractures is specific for beals syndrome, molecularly proven MFS patients with mild contractures have been reported. Lens subluxation is present in approximately half of patients with Marfan syndrome and is very rare in beals syndrome, but general ocular complications are estimated to be present in 20% of patients. The most common cardiovascular complications in Marfan syndrome are dilatation of aortic root and mitral valve prolapse, whereas in beals syndrome the cardiac finding includes aortic enlargement and/or mitral valve regurgitation.The overlap in clinical features has a molecular basis. Beal's Syndrome and Marfan Syndrome result from mutations in two homologous genes, FBN2 and FBN1, which are highly similar but distinct genes situated in 5q23-31 and 15q15-21.3 chromosome,…

    • 527 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Marfan Syndrome Essay

    • 519 Words
    • 3 Pages

    Marfan syndrome is a multisystem disorder resulting with clinical manifestations typically involving the skeletal, ocular, and cardiovascular systems. Skeletal abnormalities of Marfan syndrome include disproportionate overgrowth of the long bones, anterior chest deformity due to overgrowth of the ribs, and overgrowth of the fingers. A reduced upper-segment to lower-segment ratio to arm span to height ratio of greater than 1.05 due to the overgrowth of the arms and leg is also a major criterion for Marfan syndrome (Judge& Dietz, 2005). A major criterion for clinical manifestations in the ocular system is ectopia lentis (dislocation of the ocular lens). Although this condition is not unique to Marfan syndrome, ectopia lentis have been reported to be present in around 60% of patients with the disorder. Therefore, individuals with Marfan syndrome maybe at risk of retinal detachment and are predisposed for early cataracts or glaucoma. (Judge& Dietz, 2005). According to Otto (2013) typical clinical manifestations in the cardiovascular system include dilation, aneurysm formation and rupture of the peripheral arteries, multivalvular prolapse (especially mitral valve prolapse), and…

    • 519 Words
    • 3 Pages
    Good Essays
  • Satisfactory Essays

    Central Core Disease

    • 313 Words
    • 2 Pages

    What are the signs and symptoms?: Symptoms can either appear at birth or later in life, many different symptoms but often include, hypotonia (decreased muscle tone) at birth, weakness of the facial muscles, skeletal malformations (aka scoliosis and hip dislocation), and mild delay in child development.…

    • 313 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    Prader-Willi Syndrom

    • 1477 Words
    • 6 Pages

    PWS is a birth defect. A defect in the hypothalamus, a region of the brain, is…

    • 1477 Words
    • 6 Pages
    Good Essays
  • Good Essays

    Marfan Syndrome

    • 1017 Words
    • 5 Pages

    Marfan syndrome affects different people in different ways. Some people have only mild symptoms such as their body and bones being longer. On the other hand, other people are more severely affected because it affects their vital organ(s) or organ system(s). The body systems most often affected by Marfan syndrome are the Skeleton, Eyes, Heart and blood vessels, Nervous system, Skin, and the Lungs. However, in most cases, the more someone ages, the more the Marfan syndrome symptoms will progress. So because of this the person will not relieve that they have the disease.…

    • 1017 Words
    • 5 Pages
    Good Essays
  • Good Essays

    Many affected people inherit the disorder from a parent but between 30 to 50 percent of new cases occur because of a spontaneous genetic mutation…

    • 756 Words
    • 4 Pages
    Good Essays
  • Better Essays

    Noonan Syndrome

    • 1278 Words
    • 6 Pages

    Mostly everyone in the world has heard of some type of genetic disorder. But most people haven’t even heard or understand about Noonan Syndrome. Noonan syndrome is a genetic disorder characterized by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, and bleeding difficulties. Noonan syndrome affects a good percent of the world and may happen to anyone. Noonan syndrome has many key symptoms and very few certain treatment options. Noonan syndrome used to be referred to as the male version of Turner's syndrome (and is still sometimes described in this way); however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features of Noonan disorder include congenital heart defect (typically pulmonary valve stenosis) also ASD, hypertrophic cardiomyopathy, short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge. The syndrome is named after Dr. Jacqueline Noonan. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS-MAPK pathway, leading to pathway deregulation. Noonan syndrome is a relatively common genetic disorder with an estimated prevalence of 1 in 1000 to 1 in 2500 births.…

    • 1278 Words
    • 6 Pages
    Better Essays
  • Good Essays

    Laron syndrome is another inherited endocrine disorder in which a person is unable to use growth hormone. The child will appear normal at birth, but then grow very slowly and be significantly shorter than people who can process growth hormone. People with this disorder commonly have less muscle and lower blood sugar, as well as smaller genitals and protein deficiencies. They are also more at risk for become obese. Mutations in the GHR gene are responsible for Laron syndrome (GHR 2015c).…

    • 753 Words
    • 4 Pages
    Good Essays
  • Good Essays

    Osteogenesis Imperfecta

    • 1054 Words
    • 5 Pages

    Osteogenesis Imperfecta was a severe, congenital genetic disorder which can cause the human bones to be extremely delicate. This disease is caused by a mutation(whether it be deletion or duplication) in chromosome 17q21, 31-q22, 7q22.1, which are the chromosomes that help the body produce the proteins to make collagen, which is what makes bones and muscles strong. Because of the body not being able to create collagen, the bones become very brittle and can increase the risk of fracture by a substantial amount. The lifespan of those with Osteogenesis Imperfecta differs due to how severe the disease is. The physical features of those with the OI are short stature, triangular shaped face, breathing problems, some hearing loss, brittle teeth, and bone deformities.…

    • 1054 Words
    • 5 Pages
    Good Essays
  • Better Essays

    This is one of the most interesting genetic diseases in the world, and yet there is no cure for it. This disease can affect people drastically, or sometimes very little at all. Although there is no way to treat it, it can be helped, and there are many programs to help. This complex genetic disease is called down syndrome.…

    • 1419 Words
    • 6 Pages
    Better Essays