Everand Logo

Welcome to Everand!

  • Discover millions of ebooks, audiobooks, and so much more with a free trial

    Only $11.99/month after trial. Cancel anytime.

    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

    4/5

    ()

    Read preview

    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

    Related to Achondroplasia

    Related ebooks

    Wellness For You

    View More
    View More

    Related podcast episodes

    Related articles

    • Article

      New Frontiers in Breast Cancer

      Oct 8, 2016

      TERRIFYING AS THE C WORD CAN BE, breast cancer today means something very different than it did a decade ago. Doctors know more than ever about what causes cancer in the first place and when it’s best to screen for the disease as well as which cancer

      1 min read

    • Article

      A Blueprint For Antiageing

      Dec 7, 2023

      A Blueprint For Antiageing
      9 min read

    • Article

      Tall People Are More successful

      Oct 4, 2023

      Tall People Are More successful
      6 min read

    • Article

      Your Wellbeing

      Feb 22, 2023

      Erectile dysfunction (ED) is the inability to maintain or sustain an erection, and it’s very common. At some stage, most men will face a degree of erectile difficulties or sexual dysfunction, especially as they age. About 50% experience it at 50 year

      2 min read

    • Article

      Hear Today…

      Aug 27, 2021

      Hear Today…
      4 min read

    • Article

      The Gender Gap: Know Your Risks

      Jun 19, 2020

      The Gender Gap: Know Your Risks
      4 min read

    • Article

      Give The Gift Of Life

      Oct 25, 2020

      Give The Gift Of Life
      2 min read

    • Article

      A Well-Oiled Machine

      Feb 15, 2022

      A Well-Oiled Machine
      7 min read

    • Article

      Coping with ASPERGER’S

      Jan 25, 2023

      Advice from our Woman’s Weekly doctor Asperger’s syndrome (also now included in a condition called autistic spectrum disorder) is commoner than previously thought, affecting over one in 100 of the UK population. Historically, more men were diagnose

      3 min read

    • Article

      Your Healthy

      Apr 12, 2022

      Your Healthy
      2 min read

    • Article

      Hear & there

      Aug 20, 2023

      Hear & there
      2 min read

    • Article

      Is It Normal If…?

      Apr 25, 2023

      Is It Normal If…?
      3 min read

    • Article

      Can We Futureproof Our Brains?

      May 6, 2020

      Can We Futureproof Our Brains?
      2 min read

    • Article

      A World Without DWARFISM

      Apr 26, 2022

      A World Without DWARFISM
      4 min read

    • Article

      Perfect Your Posture!

      Jan 25, 2023

      There’s more to maintaining good posture than just pulling your shoulders back. Here we look at ways to avoid slouching. Physiotherapist Shane Roenne says, ‘The benefits are that you might have fewer injuries and niggles.’ Shane explains there are

      2 min read

    • Article

      Hear, Hear!

      Nov 19, 2022

      Hear, Hear!
      4 min read

    • Article

      WHY DO MEN Age Better?

      Mar 15, 2019

      WHY DO MEN Age Better?
      4 min read

    • Article

      What Can Help?

      May 1, 2021

      What Can Help?
      3 min read

    • Article

      Your HEALTH

      Apr 27, 2023

      ✢ Cancer screening✢ Anabolic steroids✢ HRT and the pill Q I’m very concerned about my son. He’s in his 20s and lives at home after returning from university. He has a job, but spends most of his free time at the gym. He’s obsessed with working out,

      4 min read

    Related categories

    Reviews for Achondroplasia

    4/5

    1 rating0 reviews

    What did you think?

    Tap to rate

    Review must be at least 10 words

      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.

      Enjoying the preview?
      Page 1 of 1