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Achondroplasia - Characteristics - 2

Page history last edited by Chelsea Johnson 14 years, 5 months ago

Physical Characteristics of Achondroplasia


 

People who suffer from achondroplasia have marked physical features caused by the genetic defect. These features include, but are not limited to...

 

  • Disproportionate short stature: The failure of the body to turn cartilage to bone results in shorter arms and legs than average, though torso size is normal. For males with achondroplasia, the average height is 4 ft, 4 in. For females, the average is 4 ft 1 in. [1]

                              Height for females with achondroplasia (mean/stan...[2]

This graph shows the growth of females with achondroplasia

                                                (colored lines) as compared with normal human growth (dashed lines).                                             

 

For more graphs comparing average growth to achondroplasia growth, click

here.

 

  • Large heads with prominent foreheads: Like most forms of dwarfism, achondroplasia results in an increased head circumference and a prominent forehead. These abnormalities in skull size are a result of an increased brain size (megalencephaly). Though the brain is larger than normal, people with achondroplasia usually have average intelligence.

 

[3]

 

  • Abnormal hand structure: Some, though not all, of people with achondroplasia have shorter fingers, broad hands, and/or a divergence between the ring and middle finger (trident hand configuration).

 

 

 

  • Midface Hypoplasia: People with achondroplasia suffer from midface hypoplasia in varying degrees. This means many features of their face including their eyes, jaws, and cheekbones did not develop correctly, or are developing slower than normal. With surgery, however, many people are able to correct these defects[4]. For treatment details and more about midface hydroplasia, click here.

 

[5]


 

Achondroplasia: Overview > Genetic Basis > Characteristics > Associated Health Problems > Treatment > Living with Dwarfism

 

Page created by: Jessica Hall and Chelsea Johnson

 

 

 

 

Footnotes

  1. "Achondroplasia." Genetics Home Reference. N.p., n.d. Web. 30 Oct. 2009. .
  2. Source : http://emedicine.medscape.com/article/941280-overview
  3. Source : http://www.udel.edu/chem/theopold/chem465/copland.udel.edu/~jwhite/littleguy.jpg
  4. "How Midfacial Hypoplasia Affects a Child and Treatment Options for Pediatric Midfacial Hypoplasia." St. Louis Children's Hospital Official Web Site - - St. Louis Children's Hospital. N.p., n.d. Web. 30 Oct. 2009. .
  5. http://img.medscape.com/pi/emed/ckb/otolaryngology/834279-875967-881443-1654468.jpg

Comments (2)

rryoung@... said

at 4:50 pm on Oct 27, 2009

Remember to put your citations (footnotes) in MLA format.

Kyle Gooding said

at 9:04 am on Nov 4, 2009

You guys described the physical characteristics very well! I like the chart showing the growth difference

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