Acondroplasia

 Essay about Acondroplasia

Achondroplasia is a innate bone development disorder which can be the most common reason for short-limbed dwarfism (Defendi). Affecting 1 in every single 25, 1000 people, achondroplasia is caused by a mutation inside the fibroblast development factor receptor-3 gene (FGFR3), which is found on chromosome 5, causing unusually short prominence (Schoenstadt). Achondroplasia comes from the Greek term meaning " without the fibrous connective tissue cartilage formation” since the defect causes the body to be not able to change the fibrous connective tissue cartilage into bone, causing inability for bone fragments to reach typical adult size (Ellis-Christensen).

As stated before, achondroplasia is the effect of a mutation in the FGFR3 gene which is accountable for development and m

Achondroplasia can be caused by a hereditary defect which is a dominant attribute, meaning that anyone that receives the gene in this disorder displays all the indications of achondroplastic dwarfism (Carson-Dewitt 2006). There are many issues that can trigger the innate abnormality that leads to achondroplasia. If 1 parent is affected with achondroplasia there is a 50% probability of passing that gene upon their child (Davidson 2007). If perhaps both father and mother carry the gene they have a 25% chance of getting pregnant a child with double dominating syndrome. They also have a 25% chance of using a child of normal visibility and a 50% potential for having a kid with achondroplasia (Murphy 2002). Fetuses with double dominant syndrome who received the mutated gene from both parents generally die at or shortly after birth (Murphy 2002). The mutation that causes achondroplasia has recently been identified and it is believed that it comes from a small changement in the gene that contains the instructions intended for fibroblast progress factor radio 3 also called FGFR3 (Travis 1995). FGFR3 controls the availability of healthy proteins needed for bone development in the embryo (Travis 1995).


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