Achondroplasia
By: Blair Steele
Overview
Achondroplasia is Most common form of dwarfism..People with Achondroplasia normally have abnormally low statures, disproportionately short arms and legs, large head, and distinctive facial features.
Symptoms
~Short limbs
~Normal size trunk
~Normal size head
~Saddle nose
~Sway back
~ Big forehead
~ Underdeveloped jaw.
~Normal size trunk
~Normal size head
~Saddle nose
~Sway back
~ Big forehead
~ Underdeveloped jaw.
How is Achondr-oplasia inherited?
Achondroplasia is the result of a genetic defect. It is a dominant trait. A parent with the disorder has a 50% chance of passing it down to their child. Most cases are from a mutation in the fibroblast growth factor receptor 3 gene.
Tests
Normally the condition diagnosed at birth. X-rays will confirm the presents of Achondroplasia or the affliction.
Treatments
There is no treatment to grow taller and have more proportionate limbs, but there are treatments for the complications (arthritis, weight control...) that come along with the disorder.
Current Research
New types of therapies have been found. There are a synthetic form of FGFR3—sFGFR3— has been developed and injected into mice with dwarfism. They found the synthetic protein kept the mutant gene from functioning, and the bones could grow normally.
"Achondroplasia." Gale Virtual Reference Library. 2011. Gale Virtual Reference
Library. Web. 5 Apr. 2016.
Library. Web. 5 Apr. 2016.
Achondroplasia. 2010. Gale Virtual Reference Library. Web. 4 Apr. 2016.
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