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.

Symptoms

Disproportionate body Average-sized torso

Small arms and legs

Large head

Distinctive facial features Prominent forehead

Higher risk of neurological problems

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

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

Chromosomal Location

Mutation in the FGFR3 gene Substitution

Located on short arm of chromosome 4

4p16.3

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

Inheritance Pattern

Autosomal dominant mutation

Reproduction

Affected will most likely reach reproductive age

Reproduction is possible

50% chance of passing disease on to offspring

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

Notable People

Wee-Man (Jackass) Amy Roloff (Little People Big World)

Zachary Roloff Peter Dinklage (Game of Thrones)

Resources

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

Video

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

Works Cited

“Achondroplasia” Genetics Home Reference. May 2012. Web. Feb 2 2013. 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