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Achondroplasia (Dwarfism)

Achondroplasia (Dwarfism). By Maddie Alm and Kirk Webb. Inheritance. Achondroplasia is a dominant gene. It is inherited in an autosomal dominant pattern (you only need one copy of the altered gene for the disorder to show up). Genotypes.

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Achondroplasia (Dwarfism)

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  1. Achondroplasia (Dwarfism) By Maddie Alm and Kirk Webb

  2. Inheritance Achondroplasia is a dominant gene. It is inherited in an autosomal dominant pattern (you only need one copy of the altered gene for the disorder to show up).

  3. Genotypes There are 3 genotype options for Dwarfism. The child can inherit a dominant from both parents, a recessive from the mom and a dominant from the dad, or a recessive from the dad and a dominant from the mom. Either way, only one dominant need be present for the disorder to occur.

  4. Chromosomal Abnormality Achondroplasia occurs because of a mutation in the FGFR3 gene, which is in charge of building proteins that are involved with the growth/maintenance of bone tissue. The mutation can cause the proteins to be over active, which affect the bone growth and skeletal development.

  5. Statistics • About 1 in every 15,000 to 1 in every 40,000 babies born each year are affected by Achondroplasia. • It occurs in all races/sexes • It is considered a rare disease and less than 200,000 people in the US are living with it

  6. Passing on the Disease There is approximately a 75% chance of a person who has Achondroplasia passing it onto their child. Because the disease only takes one dominant gene to be present, the child would have to receive the recessive gene from both their mother and father, that is, assuming the affected parent has a dominant and recessive gene present and not two dominant genes.

  7. Diagnosis Techniques • Prenatal Ultrasound: to check for excess amniotic fluid • Exam for increased front-to-back head size: indicating hydrocephalus • X-rays of the long bones: to check for stunted growth or signs of compression

  8. Symptoms • Bowed legs • Decreased muscle tone • Disproportionate head to body ratio • Prominent forehead • Shortened arms and legs • Short stature • Spinal stenosis/spinal curvature (kyphosis and lordosis) • Abnormal hand appearance

  9. Life Expectancy The life expectancy for someone with heterozygous genes for Achondroplasia is almost normal, generally only ten years less than the average life expectancy. Homozygous Achondroplasia is generally more severe and causes lethal deformities, usually of the rib cage. A person with this form of Dwarfism doesn’t usually survive their infant years.

  10. Treatments Current Treatments: At the time, there are no known permanent treatments for Achondroplasia. Growth hormones have been tested with little to no long-term success. At most, growth hormones will work for 2 years until their effects subside. There is also the surgery of limb lengthening, which may help lengthen their arms and legs but does not help with other deformities.

  11. Research There is some research being done involving treatments for Achondroplasia. Mice affected with this disease have been created and are being used for treatment testing, mostly involving hormone/drug therapies and different types of surgeries. The surgeries generally involve releasing the cartilage compression and lengthening.

  12. Quality of Life For the most part, people affected by dwarfism live normal lives. They may have problems finding clothes, driving, walking normally, and small things like such but usually nothing too limiting. Depending on the severity, some have many back problems and need multiple surgeries. Otherwise, besides being vertically challenged, they can do most all things unaffected people can do.

  13. Support Groups • There are many support groups, online and ones that meet, to help those living with dwarfism. Some groups groups include: • Little people of America -www.lpaonline.org • The Billy Barty Foundation -http://www.rth.org/bbf/ • Human Growth Foundation -http://www.hgfound.org/

  14. It is important to remember that people affected by Achondroplasia are normal people. They are capable of everything we are, it just requires some adaptations.

  15. Bibliography -"Book Article." Wiley Online Library. Web. 28 Feb. 2011. <http://onlinelibrary.wiley.com/doi/10.1002/0471142905.hg0912s62/full>. -"Achondroplasia." Wikipedia, the Free Encyclopedia. Web. 26 Feb. 2011. <http://en.wikipedia.org/wiki/Achondroplasia>. - "Achondroplasia | Baby | March of Dimes." Pregnancy, Baby, Prematurity, Birth Defects | March of Dimes. Web. 27 Feb. 2011. <http://www.marchofdimes.com/baby/birthdefects_achondroplasia.html>. -"Achondroplasia - Symptoms, Diagnosis, Treatment of Achondroplasia - NY Times Health Information." Health News - The New York Times. Web. 26 Feb. 2011. <http://health.nytimes.com/health/guides/disease/achondroplasia/overview.html>. -"Prevalence and Incidence of Achondroplasia - WrongDiagnosis.com." Wrong Diagnosis. Web. 28 Feb. 2011. <http://www.wrongdiagnosis.com/a/achondroplasia/prevalence.htm>. -"Treatment." JCCC Staff and Faculty Pages. Web. 27 Feb. 2011. <http://staff.jccc.edu/pdecell/heverman/treatment.htm>. -"Medical Care." Genetics of Achondroplasia. Web. 28 Feb. 2011. <http://emedicine.medscape.com/article/941280-treatment>.

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