Dwarfism

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Dwarfism

  1. 1. Dwarfism By Lauren Campbell
  2. 2. What are the Causes of Dwarfism? <ul><li>There are over 300 causes for dwarfism. </li></ul><ul><li>The most common cause is a spontaneous mutation of the Fibroblast Growth Factor Receptor 3, FGFR3, on chromosome 4 in the egg or sperm before conception. </li></ul><ul><li>The reason for the mutation is still unknown and it is not preventable in any way. </li></ul>
  3. 3. What are the Types of Dwarfism? <ul><li>The most common type of dwarfism is skeletal dysplasia. There are two types of skeletal dysplasia: </li></ul><ul><ul><ul><ul><ul><li>Short trunk with average sized limbs </li></ul></ul></ul></ul></ul><ul><ul><ul><ul><ul><li>Average sized trunk with shorter limbs, larger head with prominent forehead and shortened hands and fingers. This is known as achondroplasia. (70% of dwarfism cases) </li></ul></ul></ul></ul></ul><ul><li>Diastrophic Dysplasia: </li></ul><ul><ul><ul><ul><ul><li>clef palate, club feet, ears like cauliflower and shortened forearms and calves </li></ul></ul></ul></ul></ul><ul><li>Spondyloepiphyseal Dysplasia: </li></ul><ul><ul><ul><ul><ul><li>Club feet, cleft palate, barrel-chested appearance at birth but shorter trunk may not appear until 5 or 10 years old </li></ul></ul></ul></ul></ul><ul><li>If it is caused by metabolic or hormonal disorders then arms and legs are all shorter but still proportionate . </li></ul>
  4. 4. What are the General Symptoms?
  5. 5. How is Living with Dwarfism? <ul><li>People with dwarfism have normal intelligence and can lead healthy, active lives. </li></ul><ul><li>They go to school, get jobs, live on their own and have their own families. </li></ul><ul><li>The earlier the condition in diagnosed and treatment begins the better. </li></ul>
  6. 6. What are Treatments? <ul><li>With Skeletal Dysplasia, there are many complications that are treatable but cannot be cured: </li></ul><ul><ul><ul><ul><ul><li>Sometimes the spinal cord of a new born is slightly compressed but if it is caught early it can be surgically fixed. </li></ul></ul></ul></ul></ul><ul><ul><ul><ul><ul><li>Over time, dwarves develop hip, leg and spine problems that surgery can help. </li></ul></ul></ul></ul></ul><ul><ul><ul><ul><ul><li>Nutritionists can set up a meal plan to stay healthy and stimulate growth. </li></ul></ul></ul></ul></ul><ul><ul><ul><ul><ul><li>Physical Therapists can give exercises to stay active without putting stress on bones and joints. </li></ul></ul></ul></ul></ul><ul><li>If it is a hormonal or metabolic disorder, it can be treated with hormone injections or special diets to spark growth but may not work on all children </li></ul>
  7. 7. What is the Likelihood of Dwarfism? <ul><li>Achondroplasia </li></ul><ul><ul><ul><li>1 out of every 15,000 to 40,000 babies born of all races and ethnicities </li></ul></ul></ul><ul><ul><ul><li>Responsible for 70% of diagnosis's </li></ul></ul></ul><ul><li>Diastrophic Dysplasia </li></ul><ul><ul><ul><li>1 in every 100,000 people </li></ul></ul></ul><ul><li>Spondyloepiphyseal dysplasia </li></ul><ul><ul><ul><li>1 in every 95,000 people </li></ul></ul></ul>
  8. 8. Who are the Carriers of Dwarfism? <ul><li>Dwarves have one dwarfism gene and on “average” sized gene. </li></ul><ul><li>Average sized humans do not carry gene but a new mutation can form in the egg or sperm cells. In fact, 4 out of 5 cases are from 2 average sized parents. </li></ul><ul><li>Dwarves are the only carriers of the already affected gene </li></ul>
  9. 9. What is the Likelihood of Dwarfism? <ul><li>A couple of any race and ethnicity can have a child with dwarfism. </li></ul><ul><li>If two dwarves have children, they each have an affected gene so their child is more likely to be a dwarf. Since the parents still have an “average” sized gene, their child can still be average height </li></ul><ul><li>Two average size people can still have a dwarf because of a random gene mutation. </li></ul>
  10. 10. How is Dwarfism Inherited? <ul><li>The affected gene is dominant over the unaffected gene. </li></ul><ul><li>If two average sized people have children </li></ul><ul><ul><ul><ul><li>Dwarfism is not inherited It would be caused by a new mutation in egg or sperm. </li></ul></ul></ul></ul><ul><ul><ul><ul><li>It is very unlikely that the couple will have more than one child with dwarfism. </li></ul></ul></ul></ul><ul><li>If two little people have children: </li></ul><ul><ul><ul><ul><li>25% chance the child will be average sized. </li></ul></ul></ul></ul><ul><ul><ul><ul><li>50% chance the child will be a dwarf. </li></ul></ul></ul></ul><ul><ul><ul><ul><li>25% chance the child will get both affected genes. This is called Double Dominant Syndrome and the child will die shortly after birth. </li></ul></ul></ul></ul>
  11. 11. Bibliography <ul><li>Kids Health. (1995-2011). Dwarfism. Retrieved from http://kidshealth.org/parent/growth/growth/dwarfism.html . May 10, 2011 </li></ul><ul><li>The March of Dimes. (2011). Achondroplasia . Retrieved from http://www.marchofdimes.com/Baby/birthdefects_achondroplasia.html . May 14, 2011 </li></ul><ul><li>A.D.A.M Inc. (July 26, 2010). Growth Hormone Deficiency- Children. Retrieved from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002159l . May 15, 2011 </li></ul><ul><li>Little People of America. ( ) . Frequently Asked Questions . Retrieved from http://www.lpaonline.org/mc/page.do?sitePageId=84634&orgId=lpa#Medical . May 15, 2011 </li></ul><ul><li>US National Library of Medicine. (March 23, 2011). Retrieved form http://www.nlm.nih.gov/medlineplus/dwarfism.html#cat1 . May 14, 2011. </li></ul>

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