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Created with Fabric.js 1.4.5 Causes What is it like to live with this? Sources Achondroplasia By: Ashley Symptoms Diagnosis Current Research Achondroplasia is inherited in an autosomal dominant pattern,which means one copy of the altered gene in each cell is sufficient to cause the disorder.About 80 percent of people with achondroplasia have average-size parents; these cases result from new mutations in the FGFR3 gene. More Causes 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 afterbirth from respiratory failure. "Achondroplasia." Genetics Home Reference. N.p., n.d. Web. 28 Jan. 2015."Achondroplasia: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 29 Jan. 2015."Achondroplasia Treatment & Management." Achondroplasia Treatment & Management. N.p., n.d. Web. 29 Jan. 2015."Achondroplasia." Genetics Home Reference. N.p., n.d. Web. 28 Jan. 2015."Achondroplasia: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 29 Jan. 2015."Achondroplasia Treatment & Management." chondroplasia Treatment & Management. N.p., n.d. Web. 29 Jan. 2015.N.p., n.d. Web. <>Achondroplasia Symptoms, Causes, Treatment - How Is Achondroplasia Inherited? - MedicineNet." MedicineNet. N.p., n.d. Web. 13 Feb. 2015. <>."Emerging Research and Potential Treatments in Achondroplasia and Other Skeletal Dysplasias." Research and Treatments. N.p., n.d. Web. 11 Feb. 2015. <>. Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe. All people with achondroplasia have short stature. The average height of an adult male with achondroplasia is 131 centimeters (4 feet, 4 inches), More Symptoms And the average height for adult females is 124 centimeters (4 feet, 1 inch). Characteristic features of achondroplasia include an average-size trunk, short arms and legs with particularly short upper arms and thighs, limited range of motion at the elbows, And an enlarged head (macrocephaly) with a prominent forehead. Fingers are typically short and the ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance. People with achondroplasia generally of normal intelligence. More Symptoms Health problems commonly associated with achondroplasia include episodes in which breathing slows or stops for short periods (apnea), obesity, and recurrent ear infections. In childhood, individuals with the condition usually develop a pronounced and permanent sway of the lower back (lordosis) and bowed legs. Some affected people also develop abnormal front-to-back curvature of the spine (kyphosis) and back pain. A potentially serious complication of achondroplasia is spinal stenosis, which is a narrowingof the spinal canal that can pinch (compress) the upper part of the spinal cord. Spinal stenosis is associated with pain, tingling, and weakness in the legs that can cause difficulty with walking. Another uncommon but serious complication of achondroplasia is hydrocephalus, which is a buildup of fluid in the brain in affected children that can lead to increased head size and related brain abnormalities. Abnormal hand appearance with persistent space between the long and ring fingers, Bowed legs, Decreased muscle tone, Disproportionately large head-to-body difference, Prominent forehead (frontal bossing) ,Shortened arms and legs (especially the upper arm and thigh) ,Short stature (significantly below the average heightfor a person of the same age and sex) ,Spinal stenosis ,Spine curvatures called kyphosis and lordosis. There is no specific treatment for achondroplasia.Related abnormalities, including spinal stenosis and spinal cord compression, should be treated when they cause problems. There are researchers here in the United States and in other countries who are studying how mutations in the FGFR3 gene causes decreased bone growth in achondroplasia. One such group is BioMarin, a pharmaceutical company based in California. There are academic researchers in who areinvolved in LPA who serve as advisors to BioMarin. There is also a non-profit group, Growing Stronger, started by an LPA family who has a son with achondroplasia. Their organization is raising money to dedicate to increasing research on understanding the underlying biology in achondroplasia. Further, there are other academic centers and pharmaceutical companies around the world working on potential drugtherapies for dwarfism. Radiographic skeletal survey, Dysmorphology examination, family history assessment, For prenatal diagnosis, high resolution ultrasound exam at 16-28 weeks gestation for evaluation of bone length proportions. a. routine ultrasound prior to 16 weeks may not reveal typical featuresb. Routine ultrasound examination after 16 weeks gestation may or may not reveal short limbs, disproportionate growth, or characteristic craniofacial featuresc. ultrasound imaging ideally should be done at a center where technologist and physicians are specifically trained in looking for features of a dysplasiad. 3D ultrasound may identify characteristic facial featurese. Fetal MRI or 3D HCT may improve diagnostic powerMolecular genetic testing is not usually indicated unless clinical findings are atypical, or for future reproductive planning
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