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Achondroplasia Dwarfism By Noy A. Period 5. What Is Achondroplasia? n A bone growth disorder that results in abnormality of cartilage formation n A mutation.

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Presentation on theme: "Achondroplasia Dwarfism By Noy A. Period 5. What Is Achondroplasia? n A bone growth disorder that results in abnormality of cartilage formation n A mutation."— Presentation transcript:

1 Achondroplasia Dwarfism By Noy A. Period 5

2 What Is Achondroplasia? n A bone growth disorder that results in abnormality of cartilage formation n A mutation that occurs in about 1 out of 25,000 babies n The mutation happens while a fetus is developing in its mother’s womb n People with it are much shorter: average adult height is 4 to 3 ½ feet tall n It is inherited from the parents n People who have this disorder have the same intelligence as people who don’t A person with Achondroplasia

3 What Are The Symptoms? n Prominent forehead n Bowed legs n Short stature n Curved spine n Shortened arms and legs n Large head-to-body size difference n Decreased muscle tone n Unusual hand appearance with space between the long and ring fingers An x-ray hand of a person who has achondroplasia

4 What Are The Chances Of Someone Getting Achondroplasia? n If both parents have achondroplasia, and both have a recessive and a dominant allele, then there is a 75% chance that their child will have it, too. n If both parents have achondroplasia, and one has both dominant alleles, then there is a 100% chance that their child has it, too. Aa AAAAa aAaaaAAAAAAA aAaAaaaaaaAa aaaaa n If none of the parents has achondroplasia, there still is a chance that their kid will have it; if there is a mutation. If there is no mutation, then the child will not have it. * Note: if someone has both dominant alleles, they are most likely going to die before or shortly after birth.

5 Why Is Achondroplasia So Bad? n There is no cure for achondroplasia n Growth hormones and/ or surgery can help lengthen limbs, but therapy can cost from 10,000 to 25,000 dollars a year n There is fluid build up in the brain n Clubbed feet can make walking hard n Ear infections can lead to hearing loss n Respiratory infections make it difficult to breath

6 Conclusion n Achondroplasia is a rare disease that includes bad infections and unusual shortness. It is genetic and begins in the mother’s womb. You can never be sure if a child will have achondroplasia or not. To lengthen limbs, hormones or surgery can help, but can be expensive. Achondroplasia is hard to live with because of breathing and walking difficulties.

7 Bibliography n "Achondroplasia." N.p., n.d. Web. 15 Mar 2010.. n "Achondroplasia." Google Health. Google, n.d. Web. 14 Mar 2010.. n Riggs, Stephanie. Never Sell Yourself Short. Toronto, Canada: Albert Whitman & Company, 2001. 16. Print. n "Achondroplasia." University of Virginia Health System. University of Virginia Health System, November 6,2007. Web. 14 Mar 2010.. n " Achondroplasia." Wikipedia. Wikipedia, March 12, 2010. Web. 14 Mar 2010.. n Winkelman, Willem, and Rachel Buchholz. "KEEP STARING: I MIGHT DO A TRICK!." National Geographic Kids November 2004: n. pag. Web. 14 Mar 2010..


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