Emily+Hook

Achondroplasia is a disorder of bone growth, and it causes the most common type of dwarfism. = =

=Initial Symptoms/Side Effects = = = =Common Treatments = ====There is no actual way to cure for achondroplasia. Despite no specific treatments, related abnormalities, including spinal stenosis and spinal cord compression, should be treated when they cause problems.==== = = =Prevention = There is no way to prevent Achondroplasia in the majority of cases, because it results from a random gene mutation.
 * Abnormal hand appearance with persistent space between the long and ring fingers
 * Bowed legs
 * Decreased muscle tone
 * Disproportionately large head-to-body size difference
 * Prominent forehead
 * Shortened arms and legs (especially the upper arm and thigh)
 * Short stature (significantly below the average height for a person of the same age and sex)
 * Problems with the spine; spinal stenosis and spine curvatures; kyphosis and lordosis

= FGFR3 Gene =

FGFR3 is the acronym for fibroblast growth factor receptor 3 (FGFR3). The FGFR3 gene is responsible for causing achondroplasia.
The FGFR3 gene makes a protein called fibroblast growth factor receptor 3. This protein is part of the family of fibroblast growth factor receptors. These proteins are very similar and play a role in several important cellular functions, which include: . The FGFR3 gene is located on the "achondroplasia location" on chromosome 4, and it can affect the gene's ability to direct the proper development and maintenance of bone and brain tissue. Researchers believe that this receptor regulates bone growth by limiting the formation of bone from cartilage, particularly in the long bones.
 * Regulation of cell growth and division
 * Determination of cell type
 * Formation of blood vessels
 * Wound healing
 * Embryo development.

= = =How is Achondroplasia Inherited? =

Achondroplasia may be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from one parent, the child will have the disorder.

 * If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant's chances of being affected increase to 75%.
 * Most cases appear as spontaneous mutations. This means that two parents without achondroplasia may give birth to a baby with the condition.

About 80 percent of people with achondroplasia have average-size parents; these cases result from new mutations in the FGFR3 gene. In the remaining cases, people with achondroplasia have inherited an altered FGFR3 gene from one or two affected parents. Individuals who inherit two altered copies of this gene typically have a severe form of achondroplasia that causes extreme shortening of the bones and an underdeveloped rib cage. These individuals are usually stillborn or die shortly after birth from respiratory failure.

= Predispositions to Achondroplasia: =

Achondroplasia occurs in 1 to 15,000 in 40,000 births, and it occurs both males and females equally and in all races. = =

= Works Cited =

"Achondroplasia Location on Chromosome." //Achondroplasia Location on Chromosome//. N.p., n.d. Web. 04 Feb. 2013.

Board, A.D.A.M. Editorial. //Achondroplasia//. U.S. National Library of Medicine, 18 Nov. 0000. Web. 04 Feb. 2013.

"Achondroplasia Location on Chromosome." //Achondroplasia Location on Chromosome//. N.p., n.d. Web. 10 Feb. 2013.

"FGFR3 Gene." //FGFR3 Gene//. N.p., n.d. Web. 04 Feb. 2013.

"Result Filters." //National Center for Biotechnology Information//. U.S. National Library of Medicine, n.d. Web. 10 Feb. 2013.