Achondroplasia

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  • The Genetic Disease : Achondroplasia

    1467 Words  | 6 Pages

    Achondroplasia Altoona Midway High School By: Damon Langford Abstract This essay will address the genetic disease called Achondroplasia. The disease will be defined, explain how the disease functions and will also how it feels to live with the disease. It will also address whether the disease is inherited by the parents, or if it is a chromosomal error. Finally, this paper will conclude by providing miscellaneous facts about Achondroplasia that are, or may appear, to be fun. The name of the

  • Achondroplasia is a genetic disorder in which there is a growth hormone deficiency, or there is a

    1000 Words  | 4 Pages

    Achondroplasia is a genetic disorder in which there is a growth hormone deficiency, or there is a genetic mutation in either the father’s sperm or mother’s egg. (mayo clinic, March 20,2014.) Achondroplasia was the first discovered in ancient Egyptian records. People with achondroplasia were considered people with supernatural powers. Many people call dwarfs midgets but to them, it is very disrespectful because midget literally means little person. Some acceptable names that you can use that will

  • Essay On Achondroplasia

    329 Words  | 2 Pages

    Achondroplasia is caused by a mutation in the FGFR3 gene which is located on the fourth chromosome. It is an autosomal gene that is dominant that can be passed down by the parents. Most parents of people who suffer from achondroplasia have parents without the disorder, but new mutations constantly arise with the FGFR3 gene. Normally cartilage converts to bone during human development, but people who suffer from achondroplasia are unable to do so with most cartilage in the body. This is mostly due

  • Achrondoplasia Essay

    1233 Words  | 5 Pages

    these are what Ivy Broadhead, a teenager with achondroplasia, have to go through everyday. Ivy was born with achondroplasia, the most common form of dwarfism. It is caused by the presence of two mutant alleles in the fibroblast growth factor receptor-3 (FGFR3). It is a substitution, to be precise, at nucleotide number 1138 in the DNA. This substitution on the DNA level results in a minute change on the protein level. This change in the protein

  • What Is Achondroplasia?

    287 Words  | 2 Pages

    Achondroplasia is the disorder that I will be presenting. First, achondroplasia is a form of short-limbed dwarfism. It is where the cartilage it forms into bone instead just being around the bone. There is one gene and chromosome in specific that causes Achondroplasia. The FGFR3 gene and chromosome 4, they are mutated and cause this disorder. Last, there are many symptoms of Achondroplasia. Here are some of the symptoms, the breathing slows or stops for short periods of time, obesity, and recurrent

  • My Career With My College Career Essay

    1558 Words  | 7 Pages

    Starting at a young age I always had an interest in helping people in some shape or form. A true interest in the social service field did not come along, though, until middle of my college career with the help of my current profession in foster care. Connecting with people of different education levels throughout school to either help them understand the lecture material or to work with them to problem solve the lecture material together always came easy to me. It was then I knew I have an apt for

  • Achondroplasia Definition

    547 Words  | 3 Pages

    Definition, Diagnosis and Symptoms Achondroplasia is a genetic disorder that results in a form of dwarfism. Individuals who developed this disorder are characterized by a usually normal torso and shortened limbs. Furthermore, achondroplasia is ordinarily inherited as an autosomal dominant trait, which means that only one parent passes on a copy of the defective gene on a chromosome other than a sex chromosome. However, the majority of cases of achondroplasia are due to a new spontaneous gene mutation

  • Achondroplasia Problem

    358 Words  | 2 Pages

    abnormally, which happens in 80 to 99 percent of cases. Achondroplasia can be found during pregnancy with a fetal ultrasound. DNA testing has become more common over the past few years. It is used before birth for parents who have a higher chance at having a child with the homeostatic imbalance. Genetic testing is used when a doctor suspects something wrong. The tests search for the abnormal gene from a sample of amniotic fluid. If no signs of achondroplasia are found during pregnancy, the doctor will check

  • Achondroplasia Essay

    1328 Words  | 6 Pages

    Achondroplasia (ACH) is the most common form of short-limb dwarfism occuring in 1 in 15,000 to 28,000 births and appears to be slightly more prevalent in females, but indiscriminent toward race (1-3). Evidence has been found in Egypt for cases of ACH dating back as far as 4500 B.C. (4). In simplest terms, ACH is a disease where the dwarfing of bones formed in the cartilage occurs (5). There are many features that accompany this disease including rhizomelic (proximal) shortening of the extremities

  • Achondroplasia Genetic Disease

    330 Words  | 2 Pages

    Achondroplasia Achondroplasia can be known as dwarfism which is a genetic disease which shows of a disorder in height and bone growth . Achondroplasia is a genetic disease is a cause of Dwarfism. It occurs as a mutation is 80% of cases. It may be inherited autosomal dominant. People with Achondroplasia have a short stature. Identified by an adult 4”10 or under. Achondroplasia can be announced in an ultrasound before your born there is a DNA test. The gene mutation that is responsible for Achondroplasia

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