Preview

Manfar Sydrome

Good Essays
Open Document
Open Document
477 Words
Grammar
Grammar
Plagiarism
Plagiarism
Writing
Writing
Score
Score
Manfar Sydrome
Marfan syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures
Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.
Causes, incidence, and risk factors
Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for connective tissue in the body.
The gene defect also causes too much growth of the long bones of the body. This causes the tall height and long arms and legs seen in people with this syndrome. How this overgrowth happens is not well understood.
Other areas of the body that are affected include:
•Lung tissue (there may be a pneumothorax, in which air can escape from the lung into the chest cavity and collapse the lung)
•The aorta, the main blood vessel that takes blood from the heart to the body may stretch or become weak (called aortic dilation or aortic aneurysm)
•The eyes, causing cataracts and other problems (such as a dislocation of the lenses)
•The skin
•Tissue covering the spinal cord
In most cases, Marfan syndrome is inherited, which means it is passed down through families. However, up to 30% of patients have no family history, which is called "sporadic." In sporadic cases, the syndrome is believed to be caused by a new gene change.
Symptoms
People with Marfan syndrome are usually tall with long, thin arms and legs and spider-like fingers -- called arachnodactyly. When they stretch out their arms, the length of their arms is greater than their height.
Other symptoms include:
•A chest that sinks in or sticks out -- funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)
•Flat feet
•Highly arched palate and crowded teeth,

•Learning disability
•Movement of the lens of the eye from its normal position (dislocation)
•Nearsightedness
•Small lower jaw (micrognathia)
•Spine that curves to one side (scoliosis)
•Thin, narrow face
Signs and tests
The doctor will perform a

You May Also Find These Documents Helpful

  • Good Essays

    Hemothorax - A collection of blood in the space between the chest wall and the lung.…

    • 627 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Unit 14 E4 Cache

    • 433 Words
    • 2 Pages

    | * Hearing problems this is because bones of the middle and inner ear may develop differently in children with the syndrome. * Eye problems, the child may have a squint, their eyes may turn towards the nose/middle and they may need glasses as are usually short sighted or long sighted. * Bone, muscle, nerve, or joint problems * Immune system problems * Developmental delay…

    • 433 Words
    • 2 Pages
    Good Essays
  • Satisfactory Essays

    Quiz 4 (chp 20-26)

    • 530 Words
    • 2 Pages

    3. A tall basketball player has overly long extremities with hypermobile joints and a marked pigeon chest. This athlete may be at risk for marfan’s syndrome…

    • 530 Words
    • 2 Pages
    Satisfactory Essays
  • Powerful Essays

    Cafs- the Disabled

    • 2229 Words
    • 9 Pages

    People with disabilities require several services such as educational and employment support, doctor’s facilities, support groups, home care services and transport that they can access. These services…

    • 2229 Words
    • 9 Pages
    Powerful Essays
  • Good Essays

    Have a genetic disorder that affects the connective tissue, such as Marfan syndrome, Turner syndrome, and Ehlers-Danlos syndrome.…

    • 680 Words
    • 3 Pages
    Good Essays
  • Good Essays

    They frequently have mild to moderate short stature during childhood, but their growth usually catches up during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (syndactyly), and a single crease across the palm.…

    • 481 Words
    • 2 Pages
    Good Essays
  • Good Essays

    Muscular Dystrophy Essay

    • 488 Words
    • 2 Pages

    Muscular Dystrophy is a disorder that is passed down through families, and can occur in both adulthood, and childhood. There are multiple types of Muscular Dystrophy such as Becker MD, Duchenne MD(deadly), Emery-Deifuss MD, Facioscapulohumeral MD, Limb-Girdle MD, Myotonia MD, Mytonic MD etc.. Symptoms related to muscular dystrophy inlcue muscle weakness(slowly gets worse over time), delayed development to muscle motor skills, loss of strength in a muslce/group of muscles, loss in muscle size, difficulty of using more than one muscle group, and possible mental retardation(only present in some cases of muscular dystrophy). In some cases, it is even known to cause scoliosis.…

    • 488 Words
    • 2 Pages
    Good Essays
  • Good Essays

    Marfan Syndrome

    • 1017 Words
    • 5 Pages

    Have you ever wondered about the diseases that you can get from your parents? One of these major diseases that can change someone’s life is called the Marfan Syndrome. Marfan Syndrome is a disorder of connective tissue that is inherited from the parents. The bones and circulatory system are usually the parts of the body that are longer and the ones that are changed because of the disease.…

    • 1017 Words
    • 5 Pages
    Good Essays
  • Good Essays

    Neurofibromatosis

    • 652 Words
    • 3 Pages

    Most commonly Neurofibromatosis is passed on by family members through genes. However, 30 to 50% of newly diagnosed people have no family history of the condition, which can be attributed to a spontaneous mutation in the gene. Once this mutation has occurred, future generation will be at risk of getting the disorder.…

    • 652 Words
    • 3 Pages
    Good Essays
  • Satisfactory Essays

    The cause of Sotos syndrome is a mutation in a gene. The gene makes a protein that helps control growth. It is not known why this gene mutates. Sotos syndrome very rarely runs in families.…

    • 330 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    Essay On Sonic Hedgehog

    • 1078 Words
    • 5 Pages

    This condition is usually inherited as autosomal dominant characteristic. There are two type of polydactyly; the pre-axial (extra digit towards the hand or foot) and post-axial (extra digit is towards the lateral margin of the hand or foot). Polydactyl can occur at the same time when excess digits are fused together, which is called polysndactyly. Patients with polydactyl can exhibit Werner mesomelic syndrome. This condition is characterised by a short limb dwarfism as a result of hypoplastic tibia. WMS occurs due to specific point mutation at position 404. (Cho et al., 2013) patients with WMS, can also exhibit duplication of the ZRS region, which is the cause of type Haas polysyndactyly or triphalangeal thumb polysyndactyly syndrome. This condition doesn’t affect lower limb development. This suggests that different mutational mechanisms affecting the enhancer region of the shh gene demonstrate different phenotypic outcomes. (Wieczorek et al.,…

    • 1078 Words
    • 5 Pages
    Good Essays
  • Satisfactory Essays

    Symptoms that occur in most types of dwarfism are short stature, and shorter limbs, like arms, legs and fingers. These are the most recognizable. Others may include an increased risk of ear infection, and hearing loss, increased head size, a prominent forehead, apnea, which is a stop in breathing, while asleep, small ribcage, a curved and twisted spine, difficulty bending, and straightening elbows, being double jointed, and a delay in motor skills, such as sitting upright, crawling, walking, standing, a crowded jaw, and waddling when walking. The curving, and twisting of…

    • 459 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    Hanelyn

    • 1739 Words
    • 7 Pages

    Marfan syndrome has a range of expressions, from mild to severe. The most serious complications are defects of the heart valves and aorta. It may also affect the lungs, the eyes, the dural sac surrounding the spinal cord, the skeleton and the hard palate.…

    • 1739 Words
    • 7 Pages
    Good Essays
  • Good Essays

    Marfan Syndrome

    • 848 Words
    • 4 Pages

    Mutations of the FBN1 gene on the 15th chromosome (more specifically chromosome 15q21.1) cause Marfan syndrome. The FBN1 gene is coded to make a glycoprotein called fibrillin-1. “This protein is an essential component of microfibrils that are major structural and regulatory components in the extracellular matrix” (Keane & Pyeritz, 2009, p. 3). Fibrillin-1 binds to other fibrillin-1 proteins and also to other molecules to form threadlike filaments called microfibrils. These microfibrils constitute the structural components of the suspensory ligament of the lens and serve as bases for elastin in the aorta and other connective tissues Microfibrils become part of the fibers that provide strength and flexibility to connective tissue. These are not just critical to structural formation, but they also store molecules called growth factors and release them at various times to control the growth and repair of tissues and organs throughout the body. Production of abnormal fibrillin-1 monomers from the mutated gene disrupts the formation of multiple polymers of fibrillin-1 and prevents microfibril formation. This pathogenetic mechanism has been termed dominant-negative because the mutated fibrillin-1 disrupts microfibril formation though the other fibrillin gene encodes normal fibrillin. This mutation in the FBN1 gene reduces the amount of functional fibrillin-1 that is available to form microfibrils. As a result, excess growth factors are released (transforming growth factor-beta receptors 1 and 2) and elasticity in many tissues is decreased, leading to overgrowth and instability of tissues.…

    • 848 Words
    • 4 Pages
    Good Essays
  • Good Essays

    Gas Exchange in Mammals

    • 761 Words
    • 4 Pages

    Breathing in mammals. During inhalation, the rib cage is pulled outwards and upwards by the contraction of the intercostal muscles, while the diaphragm is lowered or flattened. The volume of the thoracic cavity is increased, the air enters the lungs. During exhalation, the intercostal relax, the rib cage is lowered and pulled inwards while the diaphragm contracts and is raised. This reduces the volume of the thoracic cavity, and the air is forced out of the lungs.…

    • 761 Words
    • 4 Pages
    Good Essays