Achondroplasia Essay

Improved Essays
Achondroplasia is defined as without cartilage formation. Meaning that cartilage is a tough one but it is also an flexible tissue that makes up much of the skeleton during early developments. It’s an bone growth disorder that causes disproportionate dwarfism. As of dwarfism, it’s an condition of short stature as an adult. There are problems dealing with achondroplasia and the problem is it not forming cartilage but it is converting it to a bone. The process of forming the cartilage and converting it to a bone in the long bone of the arms and legs is ossification. While achondroplasia is similar to other skeletal disorder such as hypochondroplastic. But achondroplasia is the only one with features that tend to be more severe. People who suffer …show more content…
Has an 50 percent chance with each pregnancy. The chance for an parent with their child having achondroplasia is an normal stature is 25 percent. As of having a child who inherits the gene mutation from both individual parent is 25 percent. Dealing with homozygous achondtoplasia, is an condition that leads to death. Achondroplasia is diagnosed by each individual by clinical and x-ray. While individuals who could be too young or to be certain to make a diagnosis. But the thing about achondroplasia dwarfing, they have a normal sized torso and short limbs. The testing can be done by using a mutation to identify the FGFR3 gene. By testing it the test can identify mutations in 99 percent of individuals who have achindroplasia. Being available in clinical laboratories. There has been researcher that have found out that the gene responsible for achondroplastic dwarfing is on chromosome 4. It’s also the same chromosome that is known to carry a gene encoding meaning it’s a receptor that binds human grown hormone. Receptors are proteins in the plasma membrane but when they bind a hormone they undergo a change in their three-dimensional structure that triggers a response inside the

Related Documents

  • Improved Essays

    These people are described as suffering…

    • 448 Words
    • 2 Pages
    Improved Essays
  • Great Essays

    Genetics is random, for an example, if the mom or dad has it, the children will have a fifty fifty chance of getting it, but things will be different if the disorder alleles is dominant. According to the table of Huffman and Sanderson (2014), “Relationship to person with…

    • 1534 Words
    • 7 Pages
    Great Essays
  • Improved Essays
    • 519 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    There is always genetic testing that parents can do to see what their chances are of having the mutation. As said from the national organization of rare diseases. “Reportedly, the…

    • 1043 Words
    • 5 Pages
    Improved Essays
  • Great Essays

    Thus, making structures and bones that are still responsive to growth hormone particularly in the hands, feet and face to overgrow (Marieb,…

    • 1517 Words
    • 7 Pages
    Great Essays
  • Improved Essays

    Cleft Lip Essay

    • 558 Words
    • 3 Pages

    Cleft lip develops as a result of hereditary and environmental factors and can be caused by medications or specific chemical exposures, not by a 2-minute obscuring of the sun or moon. Cleft lip develops as a result of hereditary and environmental factors and can be caused by medications or specific chemical exposures, not by a 2-minute obscuring of the sun or moon. Cleft lip develops as a result of hereditary and environmental factors and can be caused by medications or specific chemical exposures, not by a 2-minute obscuring of the sun or moon. Cleft lip develops as a result of hereditary and environmental factors and can be caused by medications or specific chemical exposures, not by a 2-minute obscuring of the sun or moon. Cleft lip develops…

    • 558 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    According to the Center for Disease Control and Prevention (CDC), 1 in 33 babies are born with a birth defect. Prenatal dna tests diagnose numerous genetic and neurological disorders during the first and second trimesters and allow soon-to-be parents to think about their options. Mainly, your physician may suggest prenatal dna testing if: At the time of birth, you will be 35 years of age or older…

    • 694 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    In the early 1900s, inherited diseases were first linked to chromosomes. Discoveries starting in the 1950s have helped scientists to develop genetic tests for genetic conditions such as Down syndrome, cystic fibrosis, and Duchenne muscular dystrophy. Genetic testing was initially used to make or confirm a diagnosis of a genetic condition, and to screen newborns for conditions such as phenylketonuria (PKU), so that early interventions and treatments could be administered. The screening of these genetic diseases led to appropriate assessment of the problem and assurance to the affected which are two of the core public health principles.…

    • 368 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Acromegaly is a rare excessive production of the growth hormone which is secreted by the pituitary gland. It usually effects adults in their 30s and 40s. If excessive growth hormone is present in children, the condition is called gigantism. Bones tend to increase in size, effecting facial features, hands, and feet. The long bones will grow in width, but not in length because after puberty stops, the epiphyseal disks are closed.…

    • 879 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Acromegaly Research Paper

    • 278 Words
    • 2 Pages

    Acromegaly is a hormonal growth disorder caused by excess growth hormone that develops when your pituitary gland generates too much growth home during your adulthood. This growth hormone (GH) is released by the pituitary gland, leading to a surplus of growth. The most common symptom of Acromegaly is the enlargement of hands and feet, but it may also include the enlargement of the forehead, jaw, and the nose as well. When GH is released at a moderate and constant level, it grants normal and healthy growth regulation, but too much of GH is a solemn and seldom disorder. The occurrence of acromegaly is very doubtful, approximately three to four in every million of people are diagnosed with acromegaly every year.…

    • 278 Words
    • 2 Pages
    Improved Essays
  • Decent Essays

    Turners Syndrome Essay

    • 540 Words
    • 3 Pages

    Turners Syndrome, a genetic condition which is only found in females, affects approximately 1 in every 2,500 women, therefore there is a 0.0004 chance that your child will be born with this deformity. (Judith L. Ross, MD, 2017) A woman usually has two sex chromosomes (XX) however if you are born with Turners Syndrome that means one of these chromosomes is abnormal or missing. You may discover you have this condition; before birth, at birth or during the teenage years of your life. (Department of Health & Human Services, State Government of Victoria, Australia, 2014)…

    • 540 Words
    • 3 Pages
    Decent Essays
  • Improved Essays

    When diagnosing FAS, there are a few guidelines physicians need to follow. According to the CDC website, the guidelines for diagnosing FAS are as follows: “1. Abnormal facial features; a person with FAS has three distinct facial features: smooth ridge between the nose and upper lip (smooth philtrum), thin upper lip, and a short distance between the inner and outer corners of the eyes, giving the eyes a wide-spaced appearance. 2. Growth problems; children with FAS have height, weight, or both that are lower than normal (at or below the 10th percentile).…

    • 681 Words
    • 3 Pages
    Improved Essays
  • Superior Essays

    Essay On Dysthymia

    • 1155 Words
    • 5 Pages

    Dysthymia and Depression: Would You Know It If You Saw It? He sees nothing but darkness, hopelessness, and despair. He is searching for the light at the end of the tunnel, but with no hope. Feeling worried and anxious, he struggles to fake that well-known smile. He is confused, struggling to understand his own feelings and emotions.…

    • 1155 Words
    • 5 Pages
    Superior Essays
  • Decent Essays

    Meta Description Prevent the inheritance of genetic disorders with preconception genetic screening and preimplantation genetic diagnosis at our Dallas fertility center. Comments Live Date (AMY) URL (AMY) Preconception Genetic Screening Dallas IVF recommends preconception genetic screening for patients…

    • 421 Words
    • 2 Pages
    Decent Essays
  • Improved Essays

    However, many of the researcher agreed that the cause of pituitary dwarfism is genetic phrase, it is not typically passed from parents. Experts believes that the cause of pituitary dwarfism is depending on the pituitary gland that does not produce enough of growth hormone or lack of the growth hormone which cause the body to grow slow (Gentile 2012). According to the study of Children’s Health, the investigators determine that the cause of pituitary dwarfism can be caused by genetics, accident-related trauma to the pituitary gland, surgical injury of the pituitary, central nervous system tumor and leukemia. Also, the symptoms of dwarfism is depend on the ages. In children, the symptoms for dwarfism would be an immature face, chubby body build, delayed puberty, increased fat around the face and stomach, slow tooth development, sluggish hair growth and delay growth compare to their peers.…

    • 805 Words
    • 4 Pages
    Improved Essays