1. achondroplasia

2. achondroplasia
Achondroplasia is a genetic disorder. It is the most common form of short-limbed dwarfism. People with achondroplasia typically have short arms and legs, and enlarged head, and an average-sized torso.

3. Causes Achondroplasia is an autosomal dominant gene.
It is NOT a sex linked gene.
It is a nondisjunction
There is a small chance that it could be inherited.
A healthy gene is different because it does not have a mutation in the FGFR3 gene.
Chromosome 4 is affected by achondroplasia.

4. facts Fewer than 20,000 US cases per year
It is equally as common in men and women.
It is not more common in any one ethnicity
It does not affect a particular age bracket

5. Symptoms/affect on body
Short arms and legs in proportion to their bodies
Enlarged head
Back pain
Short stature
Bow legs
Excessive inward curvature of the lower back
Hunched back
Snoring

6. Testing and screening
“Targeted mutation analysis for the two common mutations in FGFR3”
 Sequencing for rare mutations
“Testing can be performed on chorionic villus or amniocytes.”

7. treatment Growth hormone by injection
Monitoring for changes or improvements
The disease is not life-ending

8. interesting facts
Achondroplasia, which means ‘without cartilage formation’, is a Greek word.
There is no cure for achondroplasia.
In some people with achondroplasia it may be necessary to drain fluid from the head to:
relieve pressure on the brain
test for hydrocephalus, a condition where spinal fluid builds up inside the skull.

9. visuals

10. bibliography
"Learning About Achondroplasia." Learning About Achondroplasia. N.p., 11 May Web. 25 Nov
"Dwarfism." Mayoclinic. N.p., n.d. Web. 25 Nov
Kivi, Rose. "Achondroplasia." Healthline. N.p., n.d. Web. 25 Nov
"Achondroplasia - Google Search." Achondroplasia - Google Search. N.p., n.d. Web. 25 Nov <
"GeneFacts." Risk Assessment, Testing, Screening and Referral. N.p., n.d. Web. 29 Nov
"Interesting Facts." Interesting Facts. N.p., n.d. Web. 29 Nov <
"What Is Achondroplasia?" What Is Achondroplasia? N.p., n.d. Web. 29 Nov