ACHONDROPLASIA ACHONDROPLASIA Achondroplasia is a genetic disorder It

ACHONDROPLASIA • Achondroplasia is a genetic disorder. It is the most common form of

CAUSES • • • Achondroplasia is an autosomal dominant gene. It is NOT a

FACTS • Fewer than 20, 000 US cases per year • It is equally

SYMPTOMS/AFFECT ON BODY • • Short arms and legs in proportion to their bodies

TESTING AND SCREENING • “Targeted mutation analysis for the two common mutations in FGFR

TREATMENT • Growth hormone by injection • Monitoring for changes or improvements • The

INTERESTING FACTS • Achondroplasia, which means ‘without cartilage formation’, is a Greek word. •

BIBLIOGRAPHY • "Learning About Achondroplasia. " Learning About Achondroplasia. N. p. , 11 May

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ACHONDROPLASIA

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.

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 FGFR 3 gene. • Chromosome 4 is affected by achondroplasia.

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

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

TESTING AND SCREENING • “Targeted mutation analysis for the two common mutations in FGFR 3” • Sequencing for rare mutations • “Testing can be performed on chorionic villus or amniocytes. ”

TREATMENT • Growth hormone by injection • Monitoring for changes or improvements • The disease is not life-ending

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: i. relieve pressure on the brain ii. test for hydrocephalus, a condition where spinal fluid builds up inside the skull.

VISUAL S

BIBLIOGRAPHY • "Learning About Achondroplasia. " Learning About Achondroplasia. N. p. , 11 May 2012. Web. 25 Nov. 2015. • "Dwarfism. " Mayoclinic. N. p. , n. d. Web. 25 Nov. 2015. • Kivi, Rose. "Achondroplasia. " Healthline. N. p. , n. d. Web. 25 Nov. 2015. • "Achondroplasia - Google Search. " Achondroplasia - Google Search. N. p. , n. d. Web. 25 Nov. 2015. <https: //www. google. com/search? q=Achondroplasia&gws_rd=ssl>. • "Gene. Facts. " Risk Assessment, Testing, Screening and Referral. N. p. , n. d. Web. 29 Nov. 2015. • "Interesting Facts. " Interesting Facts. N. p. , n. d. Web. 29 Nov. 2015. <http: //megeve 0. tripod. com/id 1. html> • "What Is Achondroplasia? " What Is Achondroplasia? N. p. , n. d. Web. 29 Nov. 2015.