Achondroplasia, Dwarfism

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Achondroplasia is defined as a genetic disorder stopping normal growth of cartilage, resulting in a form of dwarfism characterized by a usually normal torso and shortened limbs. Achondroplasia was discovered in the year 1994 by a group of scientists led by Dr. John Wasmuth. It’s usually inherited as an autosomal dominant trait. Scientist discovered that the gene responsible for achondroplasia has been mapped down to chromosome 4p16.3 (refs 7, 8). The gene contains a member of the fibroblast-growth-factor receptor (FGFR3) family, which is shown in articular chonfrocytes. A missense mutation in the fibroblast growth factor receptor, on chromosome 4p, in humans, causes achondroplasia. Symptoms of achondroplasia are 1- Disproportionately short arms and legs, 2- Short fingers, 3- A large head with a prominent forehead, 4: A mid-face, 5- Short stature, and 6: Decreased muscle tone. Some children have delayed motor milestones, bowing of lower legs, and frequent ear infections. Intelligence and life span is not affected while having achondroplasia. 2-5 percent of children die due to symptoms. For some people that have anchondroplasia their biggest challenge is overcoming there low self-esteem and lack of being social. Many people get depressed as well. Achondroplasia can be diagnosed by X-ray findings in most affected individuals. Some individuals who are too young to make a diagnosis with certainty or some who don’t have the symptoms of achondroplasia, genetic testing can be used to identify the mutation in the FGFR3 gene. If a child has already been born then the best genetic testing for achondroplasia would be a physical examination and an x-ray to see the skeletal structure of the baby. This genetic testing is done through a blood analysis. Testing parents for achondroplasia is done by an ultrasound. Achondroplasia genetic testing still seems to be the best test for this

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