Genetic Disorder Paper

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“Achondroplasia is a disorder of bone growth. It is the most common form of disproportionate short stature. It occurs in one in every 15,000 to one in 40,000 live births. Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth factor receptor 3 that is involved in converting cartilage to bone. FGFR3 is the only gene known to be associated with achondroplasia. All people who have only a single copy of the normal FGFR3 gene and a single copy of the FGFR3 gene mutation have achondroplasia.” (genome.gov)

Description:
Most dwarfing conditions are described as either short-limbed or short-trunked dwarfism. Achondroplasia is a form of short-limbed dwarfism. This means that their sitting height is within range of an average person’s sitting height, but their legs are just shorter. The disorder’s involvement tends to be rhizomelic, which means the thighs and arms are shorter, rather than the calves and forearms. The most common problem with Achondroplasia is the abnormal bone growth during development. Because of this, the features are able to be seen at birth (medscape.com).
Epidemiology:
The size of the victim’s parents does not matter when being affected by Achondroplasia. Since the disorder is the result of a genetic mutation, anyone can get it. However, parents with the disorder will always pass on the disease (medscape).
Approximately 10,000 individuals in the U.S. are affected by Achondroplasia, and about 190,000 people in the world are afflicted with this disorder.Achondroplasia also affects about eighty percent of dwarfs. The disorder occurs in all races equally, as well as genders (medscape.com).

Modes of Inheritance:
Achondroplasia is no...

... middle of paper ...

...r the first year of life, and they can go on to lead fulfilling lives. They do, however, have more bone and spinal problems, and should avoid high-impact sports because so.

Works Cited:
Emerging research and potential treatments in achondroplasia and other skeletal dysplasias. (n.d.). Retrieved March 17, 2014, from http://www.lpaonline.org/research-and-treatments
Journal of Pediatric Orthopaedics. (n.d.). Retrieved March 19, 2014, from http://journals.lww.com/pedorthopaedics/Abstract/1989/09010/Limb_Lengthening_for_Achondroplasia_Early.2.aspx
Achondroplasia. (n.d.). Retrieved March 19, 2014, from http://www.med.nyu.edu/content?ChunkIID=23862
Learning About Achondroplasia. (n.d.). Retrieved March 17, 2014, from https://www.genome.gov/19517823
"Achondroplasia ." Achondroplasia. Web. 20 Mar. 2014.
/emedicine.medscape.com/article/1258401-overview#a0199>.

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