Achondroplasia Research Paper

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Achondroplasia; it is a form of short-limbed dwarfism. The word itself means “without cartilage formation.” Cartilage makes up most of the bone during early development. Usually the cartilage turns into bone after the end of development, but it’s different with Achondroplasia. In Achondroplasia, the problem is in the cartilage not converting to bone….. Which causes dwarfism. Achondroplasia has been around for many years but, was discovered in 1994. Achondroplasia is inherited by an autosomal dominant gene, all that means is that there will be abnormal cartilage formation. It 's the mutation in the FGFR3 gene that causes Achondroplasia. The FGFR3 gives instructions for making proteins that are involved in the making of bone and tissue. That…show more content…
Most forms are from a random genetic mutation in either the father’s sperm or the mother’s egg rather than from either of the parent’s complete genetic makeup. Another cause of dwarfism is Turner Syndrome which is when a sex chromosome is missing or partially missing in girls or females and they inherit an X chromosome from each parent. Growth hormone deficiencies are also linked to genetic mutations that can result in dwarfism and some causes are just unknown. Dwarfism is typically defined as an adult height of 4 feet 10 inches or less and the average height among people with dwarfism is 4 feet. Dwarfism is usually divided into two categories; disproportionate dwarfism which is where some parts of the body are small and some parts are average or above average and this type prevents the bones from developing. The other type is proportionate dwarfism where all the body parts are small and are the same size. This type is usually apparent at birth or early childhood when growth and development do not happen normally. Dwarfism remains a rare disease and it only affects about 200,000 people in the population. There were approximately 5000 achondroplasts in the United States of America in 1971 and approximately 65000 in the

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