Preview

Research Paper On Achondroplasia

Satisfactory Essays
Open Document
Open Document
220 Words
Grammar
Grammar
Plagiarism
Plagiarism
Writing
Writing
Score
Score
Research Paper On Achondroplasia
Achondroplasia is a disorder that affects bones. This is also known as Dwarfism. People with Achondroplasia have shorter arms and shorter legs. Due to this, it is possible that they can have difficulty bending their elbow. They could have bowed legs. They can also have smaller lungs but larger heads. It can be difficult for people to walk who have Achondroplasia. It is harder for people to breath because they have smaller lungs. It is possible for there to be water on the brain and for your spine to be pressed on due to Achondroplasia. They can get many ear infections.

When someone is pregnant, they can get an ultrasound to find out if the baby has Achondroplasia based off bone structure and length. You can get a get a genetic blood test to

You May Also Find These Documents Helpful

  • Good Essays

    1)A blood test,Alpha-fetoprotein (AFP), during the 16th to 18th weeks of pregnancy can help determine whether an infant will be born with spina bifida. 2) Another way to determine spina bifida is to have an ultrasound completed, An ultrasound of the feus may show if he baby has an open spine. 3) The third test for spina bifida is for the mother to have a test called an amniocentesis completed. During this procedure the doctor inserts a needle into womb and withdrawa a small amount of fluid to check the protein level. The level of protein will confirm if the baby will be born with spina bifida or…

    • 527 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
  • Better Essays

    As with other birth defects, most myelomeningoceles are discovered by routine ultrasound evaluation between 16 and 18 weeks into the pregnancy. Sometimes, a blood test known as maternal serum alpha fetoprotein (AFP) is also positive, triggering the ultrasound. Sonographic features suggestive of myelomeningocele include a cystic mass anywhere on the spine. If no skin covers the defect, alpha fetoprotein levels in the blood and amniotic fluid will be elevated and support the diagnosis. (“The Children’s Hospital of…

    • 1704 Words
    • 7 Pages
    Better 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
  • Good Essays

    A type of birth defect that affects the skeletal system is Spina Bifida. Spina Bifida is a nueral tube defect that occurs when the bones of the spine or the vertebrae do not form accurately around the spinal cord. In severe cases it can inhibit a persons walking or daily activities. There are three basic forms of Spina Bifida. The mildest form is Occulta, the next would be Meningocele and the most severe is Myelomeningocele. (http://www.uptodate.com/contents/overview-of-the-management-of-myelomeningocele-spina-bifida 2012) Myelomeningocele is the case that affects the skeletal system the most. With this, the nerves in the spine protrude out of the spinal canal and a bulge in the skin may appear. If nerves become damaged, there may be a high chance that there could be problems with walking, coordination and bowel…

    • 719 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Infants can be diagnosed if a doctor spots a cherry-red spot in the retina of their eye, it will most likely be Tay Sachs. There is a 50% chance in every pregnancy of having a child being a TSD carrier. Most people who suffer from Tay Sachs disease is discovered to have the mutation around six months when symptoms start showing. Ashkenazi Jews are especially affected by Tay Sachs. In the United States, approximately 1 out of 27 Jews are a Tay Sachs carrier. In the non-jewish population, about 1 out of 250 people are Tay Sachs carriers. Another ethnic group affected are the people with ancestry from Ireland, they are at a risk of 1 out of 50 people. To see if you have TSD or if you are a TSD carrier you can undergo a blood plasma assay that can see differences in Hex A activity. You can basically get the test whenever you want or you might be recommended one if severe symptoms start showing. After women becomes pregnant, a test can be done to see if the baby has Tay Sachs, and whether or not the fetus has TSD there can be counseling for the parents and counseling about therapeutic pregnancy termination. There is therapy available for people with Tay Sachs that is aimed towards making the child…

    • 928 Words
    • 4 Pages
    Good Essays
  • Satisfactory Essays

    This condition can be tested for before a baby is born during an ultrasound (a scanning of inside the stomach of a pregnant woman). While checking the baby or fetus during an ultrasound, the…

    • 432 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    This disease can be diagnosed at birth and testing is available to identify whether the person…

    • 631 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Essay On Cerebral Palsy

    • 806 Words
    • 4 Pages

    Cerebral palsy can lead to the hardening of muscle tissues, inhibition of bone growth, stooping of bones, and the dislocation and deformation of joints—resulting in a myriad of physical and mental issues. Mobility issues are common in individuals with cerebral palsy. 1 in 3 children will be unable to walk and sit independently. A more severe mobility issue in children includes spastic quadriplegia, which affects the entire body—mainly the limbs—and is similar to paralysis. Muscle degradations are also present around the mouths and tongues of individuals with cerebral…

    • 806 Words
    • 4 Pages
    Good Essays
  • Better Essays

    Ipa Critique

    • 1423 Words
    • 6 Pages

    The research was about to explore how difficult is for being a mother and make a decision on their children’s life. The study answered the report question by giving a very good brief knowledge about the health issue (achondroplasia) what they need to deal with, and how to prepare their child for the operation by letting them to decide whether they want to have their operation done or not.…

    • 1423 Words
    • 6 Pages
    Better Essays
  • Good Essays

    Since the test involves taking only a small blood sample, where a person’s DNA can be found, these tests have a minimal health risk. Genetic testing was initially used in pregnancies to test for diseases like Down's Syndrome and other genetic disorders (“What are the...”). However, thanks to more recent improvements, genetic testing has come to display several weaknesses and strengths. The genes that can be obtained from infants can notify parents of possible physical deficiencies, while others may show physical advantages (Stein).…

    • 478 Words
    • 2 Pages
    Good Essays
  • Good Essays

    Genetic testing to look for defects in the genes that are linked with the disease…

    • 733 Words
    • 3 Pages
    Good Essays
  • Satisfactory Essays

     Abnormal joints and limbs- these include deformities of the small joints of the hands as well as an incomplete rotation at the elbow.…

    • 495 Words
    • 2 Pages
    Satisfactory Essays
  • Satisfactory Essays

    My specific purpose is to inform my audience about the effects of alcohol on the fetus, the many effects and harms associated with Fetal Alcohol Syndrome, and treatment for fetal alcohol syndrome.…

    • 290 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    The following will cover the effects, causes and the treatments for the genetic disorder, Osteogenesis Imperfecta. The term Osteogenesis Imperfecta means imperfect bone formation. Also known as brittle bone disease, OI, and Vrolik disease, osteogenesis imperfecta causes people to have weak bones. OI can also affect the body in other ways such as hearing, bone deformities, loose joints, discolored sclera( the whites of your eyes), and spine curvature. The severity of the disease can vary depending on which form of the disease the individual has. There are eight different forms of osteogenesis imperfecta, with type I being the mildest form and type II being the most severe. The symptoms of OI may also vary from person to person even if they…

    • 739 Words
    • 3 Pages
    Good Essays