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    Achondroplasia: Causes, Tests, and Treatment Options
    Achondroplasia: Causes, Tests, and Treatment Options
    Achondroplasia: Causes, Tests, and Treatment Options
    Ebook58 pages41 minutes

    Achondroplasia: Causes, Tests, and Treatment Options

    By Jennifer Garland

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    About this ebook

    Achondroplasia is a genetic abnormality resulting in short stature and other physical defects. This means that if you suffer from achondroplasia, you may have deformed bones resulting in physical abnormalities. Achondroplasia can result in physical defects such as short arms and legs and an abnormally large head. You may also be unable to move your elbow fully. Sometimes, this disorder is a result of genetics. But most of the cases of achondroplasia are free of any related family history and occur because of a random mutation of the genes. A variety of tests can discover the mutated gene, both inside and outside the womb. Various treatment options, including bone-lengthening procedures and other surgeries. This must-have book guides you through the disorder, including causes, tests and treatment options.

    LanguageEnglish
    PublisherAndale LLC
    Release dateMar 9, 2012
    ISBN9781476019628
    Achondroplasia: Causes, Tests, and Treatment Options

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      Book preview

      Achondroplasia - Jennifer Garland

      Achondroplasia: Causes, Tests and Treatment Options

      Jennifer Garland, MA; Robert Steinman, MD (Ed.)

      Smashwords Edition

      ****

      Copyright 2012 Jennifer Garland, MA; Robert Steinman, MD

      Smashwords Edition, License Notes

      This ebook is licensed for your personal enjoyment only. This ebook may not be re-sold or given away to other people. If you would like to share this book with another person, please purchase an additional copy for each recipient. If you’re reading this book and did not purchase it, or it was not purchased for your use only, then please return to Smashwords.com and purchase your own copy. Thank you for respecting the hard work of this author.

      Contents

      One: What is Achondroplasia?

      Two: Causes

      Three: Symptoms and Signs

      Four: Diagnosis

      Genetic testing

      Five: Preparing for the Appointment

      Six: Treatment

      Seven: Social Support

      Appendix A: Resources / Further Reading

      References

      One: What is Achondroplasia?

      Achondroplasia is a genetic abnormality resulting in short stature and other physical defects. This means that if you suffer from achondroplasia, you may have deformed bones resulting in physical abnormalities. Ossification is the process which causes the formation of bones in your body; you suffer from achondroplasia when this process is affected. The areas of the body containing long bones such as arms, thighs and legs are the main parts that are affected due to this disorder. So if you have achondroplasia, there is a very high risk that you may have a short stature and other physical defects.

      Although the same symptoms and signs of this disorder are found in affected males and females, there is a slight difference in the height of affected males and females. The average height of an adult male who suffers from achondroplasia is about 131 centimeters (equal to 4 feet, 3.5 inches) while the average height of an adult female in such cases is about 123 centimeters (equal to 4 feet, 0.5 inch). Achondroplasia can result in physical defects such as short arms and legs and an abnormally large head. You may also be unable to move your elbow fully. Sometimes, this disorder is a result of genetics. But most of the cases of achondroplasia are free of any related family history and occur because of a random mutation of the genes. About 88 percent of cases of this disorder are due to the new mutations in the genes responsible for bone growth, height and other physical features.

      Cartilage is a tough kind of tissue in your body which converts to bones and helps create new bones in your body. The main problem that occurs because of achondroplasia is that the change in the cartilage to bones is prevented. This stops the proper growth of your bones. Even if the bones grow to some extent, that growth is not normal. This abnormal growth of bones is caused by a mutation in the gene known as fibroblast growth factor receptor 3 (FGFR3). If your child is suffering from achondroplasia, he may face severe symptoms. This is because children have a natural tendency to grow. But if they grow and the bones are not shaped correctly, this can lead to greater deformation. So you should start the treatment of your child at the early stages. If you ignore the diagnosis and treatment for him, his condition can get severe and it can even damage his nervous system.

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