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Acondroplasia

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Achondroplasia is a genetic bone growth disorder which is the most common cause of short-limbed dwarfism (Defendi). Affecting 1 in every 25,000 people, achondroplasia is caused by a mutation in the fibroblast growth factor receptor-3 gene (FGFR3), which is located on chromosome 4, causing abnormally short stature (Schoenstadt). Achondroplasia comes from the Greek word meaning “without cartilage formation” as the defect causes the body to be unable to change cartilage into bone, causing failure for bones to reach normal adult size (Ellis-Christensen).

As stated before, achondroplasia is caused by a mutation in the FGFR3 gene which is responsible for development and m

Achondroplasia is caused by a genetic defect that is a dominant trait, meaning that anyone who receives the gene for this disorder will show all the symptoms of achondroplastic dwarfism (Carson-Dewitt 2006). There are many things that can cause the genetic abnormality that leads to achondroplasia. If one parent suffers from achondroplasia they have a 50% chance of passing that gene onto their child (Davidson 2007). If both parents carry the gene they have a 25% chance of conceiving a child with double dominant syndrome. They also have a 25% chance of having a child of normal stature and a 50% chance of having a child with achondroplasia (Murphy 2002). Fetuses with double dominant syndrome who received the mutated gene from both parents usually die at or shortly after birth (Murphy 2002). The mutation that causes achondroplasia has recently been identified and it is believed that it results from a small mutation in the gene that contains the instructions for fibroblast growth factor receptor 3 also called FGFR3 (Travis 1995). FGFR3 controls the production of proteins needed for skeletal development in the embryo (Travis 1995).