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Achondroplasia<br />By: Mitchell Monarch<br />
A mutation in bone growth which generally is one of the most common causes of dwarfism.<br />What is it?<br />
With the current technology given there are no cures for achondroplasia but there are ways to reduce the probability of th...
This is dominant trait so any one that has the disease will show the trait along with some of the symptoms.<br />What kind...
Achondroplasia is also known by other terms such as these.<br />Also called chondrodystrophy,  fetal rickets<br />
The gene that causes achondroplasia is FGFR3 gene which is a gene that provides the instructions to making proteins.<br />...
The exact change that happens to the amino acid change that causes achondroplasia is that the amino acid Guanine is replac...
Ivy Broadhead a 17 year old girl who has the genetic condition achondroplasia answers all the such as alterations to her l...
A group of scientists led by Dr. John Wasmuth were the first to look into the disease finding its cause.<br />Who discover...
To some this all up a pedigree chart from a family who has had the disease.<br />
Carson-DeWitt, Rosalyn, MD. "Achondroplasia." Gale Encyclopedia of Medicine. Thomson Gale, 2006. Health Reference Center A...
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Achondroplasia

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Achondroplasia

  1. 1. Achondroplasia<br />By: Mitchell Monarch<br />
  2. 2. A mutation in bone growth which generally is one of the most common causes of dwarfism.<br />What is it?<br />
  3. 3. With the current technology given there are no cures for achondroplasia but there are ways to reduce the probability of the child to be born with it. Also there are multiple ways to treat some of the symptoms that the disease may cause such as hearing loss but the child/person will remain small with short legs and arms for their whole life.<br />Is there a cure?<br />
  4. 4. This is dominant trait so any one that has the disease will show the trait along with some of the symptoms.<br />What kind of trait is this?<br />
  5. 5. Achondroplasia is also known by other terms such as these.<br />Also called chondrodystrophy,  fetal rickets<br />
  6. 6. The gene that causes achondroplasia is FGFR3 gene which is a gene that provides the instructions to making proteins.<br />Exact name of gene with chart<br />Can affect any of these chromosomes. Mainly common on 3rd set of chromosomes.<br />( Uic.Edu )<br />
  7. 7. The exact change that happens to the amino acid change that causes achondroplasia is that the amino acid Guanine is replaced with Arginine. So the base pairing rule is messed up. Instead of C -> G its going C -> A which is the main mutation.<br />What is the exact change that causes this mutation to occur?<br />
  8. 8. Ivy Broadhead a 17 year old girl who has the genetic condition achondroplasia answers all the such as alterations to her life and how she gets around.<br />Life for a person with achondroplasia<br />
  9. 9. A group of scientists led by Dr. John Wasmuth were the first to look into the disease finding its cause.<br />Who discovered this disease (Researched into it more)<br />
  10. 10. To some this all up a pedigree chart from a family who has had the disease.<br />
  11. 11. Carson-DeWitt, Rosalyn, MD. "Achondroplasia." Gale Encyclopedia of Medicine. Thomson Gale, 2006. Health Reference Center Academic. Web. 17 Apr. 2011.<br />"achondroplasia." Mosby's Medical, Nursing, & Allied Health Dictionary. 5th ed. Mosby, 1998. Health Reference Center Academic. Web. 18 Apr. 2011.<br />"FGFR3 - Fibroblast Growth Factor Receptor 3 - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. 14 Apr. 2011. Web. 19 Apr. 2011.<br />Broadhead, Ivy UK. "Living with Achondroplasia." Chroniclelive.co.uk. Chronicle Live, 4 Aug. 2005. Web. 19 Apr. 2011.<br />Works Cited<br />

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