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By Garcelle.Herke Period 3

Achondroplasia (Dwarfism). By Garcelle.Herke Period 3. How does a person inherit it?. It occurs as a sporadic mutation in about 85% of cases May be inherited in an autosomal dominant genetic disorder. What are the possible genotypes of the parents?.

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By Garcelle.Herke Period 3

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  1. Achondroplasia (Dwarfism) By Garcelle.HerkePeriod 3

  2. How does a person inherit it? It occurs as a sporadic mutation in about 85% of cases May be inherited in an autosomal dominant genetic disorder.

  3. What are the possible genotypes of the parents? If both mom and dad have RR then they there will be 100% the child will have dwarfism. If both parents are Rr then there will be a 75% the child will have dwarfism. If the mom is Rr and the dad is rr then there at least 50% of their children will have dwarfism.

  4. How prevalent is the disease in the population? The most common type of dwarfism would be achondraplasia. Approxiamiatley 10,000 individual are said to have achondraplasia in the United States. It affects about 1 in 40,000 children Approximiatley 150,00 people have achondroplasia worldwide. 80% of all “Little people” have achondroplasia.

  5. What are the chances of a person with this disease passing the disease to their offspring? A person who has dwarfism has a 50% chance of passing on that gene to their offspring. If two people who have dwarfism have a child, their child has a 25% chance of dying shortly after birth, 50% they will get dwarfism, and a 25% they will have an average phenotype.

  6. How is the disease diagnosed? It can be detected before birth by the use of prenatal ultrasound. DNA test can be used to detect homozygosity, where in two copies of the mutant gene are inherited a lethal conditional leading to stillbirths.

  7. What are the physical symptoms of the disease? The child would have a long and narrow torso with short arms and legs. The head would be typically larger than the body. With walking the, the hump goes away of the lower back becomes obvious. The baby exhibits decrease in muscle tone. A male would be about 52 inches and an adult female would average about 49 inches.

  8. What is the life expectancy of someone with the disease? It is approximately 10 years less then a person with an average height.

  9. How can the disease be treated? There is still no known treatment for achondroplasia. Though there are human growth hormones, but they do not work for people with achondroplasia. There is a controversial surgery of limb lengthening will lengthen the arms and legs of someone with achondroplasia.

  10. What are some new treatments or research that is going on for the disease? There are no new treatments for achondroplasia besides trying to keep those who do have under control with weight and middle ear infection management. In severe cases there is surgery available for strengthening and correcting deformed bones.

  11. Personal Little people can do just about everything we can do, but they just have to alternate to their height. They can do some exercises like average height people can like running they have to go slow with that, but they still do sports. An organization that helps people with achondroplasia is the Little people of America.(http://web.memberclicks.com/mc/page.do?sitePageId=37298&orgId=lpa) Right now there is still no cure on achondroplasia, but there are a lot of organizations such as LPA that help people with dwarfism cope with what they have.

  12. Bibliography http://en.wikipedia.org/wiki/Achondroplasia http://biodwarfism.blogspot.com/2009/02/what-are-possible-genotypes.htmlhttp://emedicine.medscape.com/article/1258401-overview http://en.wikipedia.org/wiki/Dwarfism http://www.buzzle.com/articles/achondroplasia-causes-symptoms-and-treatments.html

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