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Achondroplasia Dwarfism

Achondroplasia Dwarfism. Austin McDaniel and Aricia Argyris. What is Achondroplasia Dwarfism?. Achondroplasia Dwarfism is a disorder that causes shortness of the limbs, resulting in a disproportionate body. It is the most common form of dwarfism and affects 1/10,000-1/40,000 births.

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Achondroplasia Dwarfism

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  1. Achondroplasia Dwarfism Austin McDaniel and Aricia Argyris

  2. What is Achondroplasia Dwarfism? • Achondroplasia Dwarfism is a disorder that causes shortness of the limbs, resulting in a disproportionate body. It is the most common form of dwarfism and affects 1/10,000-1/40,000 births.

  3. Symptoms • Disproportionate body • Average-sized torso • Small arms and legs • Large head • Distinctive facial features • Prominent forehead • Higher risk of neurological problems

  4. Who Does it Affect? • Affects males and females equally • Affects 1/10,000-1/40,000 births • Parents have a 50% chance of passing it on

  5. How Do You Get it? • 80% of people with achondroplasia have average-sized parents • Result of a spontaneous mutation in the FGFR3 gene • Others inherit altered gene from affected parent

  6. Chromosomal Location • Mutation in the FGFR3 gene • Substitution • Located on short arm of chromosome 4 • 4p16.3

  7. Why? • FGFR3 gene makes a protein called fibroblast growth factor receptor 3 • Site of action of a major growth factor • Responsible for lengthening bones • Absence of receptor • Growth of bones is slowed • Achondroplasia means “without cartilage formation” • Trouble converting cartilage to bone

  8. Inheritance Pattern • Autosomal dominant mutation

  9. Reproduction • Affected will most likely reach reproductive age • Reproduction is possible • 50% chance of passing disease on to offspring

  10. Treatments and Cures • No cure for achondroplasia • Most related problems can be treated • Dental problems (from overcrowding of teeth) • Recurrent ear infections • Specific treatments can help increase height

  11. Notable People • Wee-Man (Jackass) • Amy Roloff (Little People Big World) • Zachary Roloff • Peter Dinklage (Game of Thrones)

  12. Resources • http://ghr.nlm.nih.gov/ • http://www.aurorahealthcare.org/ • http://www.genome.gov/

  13. Video • http://channel.nationalgeographic.com/channel/videos/science-of-dwarfism/

  14. Works Cited • “Achondroplasia” Genetics Home Reference. May 2012. Web. Feb 22013. http://ghr.nlm.nih.gov/condition/achondroplasia • “Achondroplastic Dwarfism” Cenars-Sinai Edu. Web. Feb 2 2013. http://www.cedars-sinai.edu/Patients/Health-Conditions/Achondroplastic-Dwarfism.aspx • Alan, Rick. “Achondroplasia” NYU Langone Medical Center. October 2012. Web. Feb 2 2013. http://www.med.nyu.edu/content?ChunkIID=23862 • American Medical Association. The American Medical Association Encyclopedia of Medicine. • Gale Encyclopedia of Genetic Disorders.  • “Learning About Achondroplasia” National Human Genome Research Institute. May 2012. Web. Feb 16 2012. http://www.genome.gov/19517823 • “Achondroplasia” Aurora Health Care. Sep 2012. Web. Feb 16 2013. http://www.aurorahealthcare.org/yourhealth/healthgate/getcontent.asp?URLhealthgate=23862.html

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