Achondroplasia


 = __Achondroplasia - By NL and AF __  = **Type of Disorder:** Achondroplasia is more commonly known as dwarfism. Individuals can receive this disorder by 2 ways. The first way, is inheriting it from a parent who has the disorder. This disease is autosomal dominant meaning that if a person has a gene then they will have the disorder. If a homozygous parent is present then there the baby will have the disorder. The other way to receive the gene is by a mutation on nucleotide 1138 of the FGFR3 gene, Chromosome 4. 

**Diagnosis:** Achondroplasia can be diagnosed at birth by observing the formation of the body. A good indication is if the baby is born with a long, narrow trunk with short arms and legs. X-rays, ultrasound, chorionic villus sampling and amniocentesis may be used to identify the condition before birth.  **Prognosis:** 2-5% of newborns with this disease die within the first twelve months of life. If a child survives beyond that point, they will have regular intelligence and regular lifespan. 
 * Symptoms:** Achondroplasia is characterized by a short stature with dis-proportionate short arms and legs. Afflicted people have limited elbow extension and a hand which looks like a trident. People have some deformed skeletal systems. The infant will have a larger head and the body is not proportional. 

The general average for people with this disorder is : 1 out of 25,000. For people in Latin America: 1 out of 10,000. For the people in Denmark: 12  out of 77,000 <span style="font-size: 120%; color: rgb(128, 128, 128);"> <span style="font-size: 132%; color: rgb(120, 18, 226);">The “munchkins” from the classic “Wizard of Oz” were people with achondroplasia <span style="font-size: 132%; color: rgb(0, 128, 128);"> <span style="display: block; font-size: 120%; color: rgb(255, 0, 210); text-align: center;"> <span style="display: block; font-size: 120%; color: rgb(0, 128, 128); text-align: center;"><span style="color: rgb(255, 0, 210);"> <span style="font-size: 120%; color: rgb(0, 128, 128);"> <span style="color: rgb(0, 0, 128);">Links: <span style="color: rgb(0, 0, 0);">http://www.sciencemuseum.org.uk/on-line/genes/images/1-3-5-1-4-2-1-1-1-0-0.jpg http://lh5.ggpht.com/fisherwy/R_uee2V-urI/AAAAAAAAOdY/pdsfMfmPzjA/world+smallest+girl+Jyoti+Amge++photo+picture%5B3%5D.jpg www.graphics.iparenting.com/.../00016328.jpg [] [] [] [] [] <span style="font-size: 120%; color: rgb(0, 128, 128);"><span style="color: rgb(0, 0, 128);">
 * Treatment:** No treatment is currently available. This disease is a genetic disorder and in order to treat there it, all of the cells in the human body would need surgery and have the genes fixed.

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