Essay On Achondroplastic Dysplasia

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Achondroplasia is a disorder most commonly associated with its expression of dwarfism in those affected by it. Also referred to as Achondroplastic Dwarfism and sometimes abbreviated ACH, a common definition follows that it is a genetic disorder disturbing the normal growth of cartilage. This disorder, which affects all populations and is indifferent to gender, occurs when there is a mutation in one specific gene; the FGFR3 gene, on chromosome four. This mutation typically occurs as a de-novo gene alteration, but is inherited as an autosomal dominant trait if passed on from a parent/parents. Although a seemingly small difference, the genetic mutation associated with Achondroplasia causes drastic differences in body appearance when compared to people without this disorder, mainly concerning the “abnormally short stature” it is characterized by (1). Additionally, individuals affected by this mutation face a lifetime of physical and social challenges, as well as the possibility of dangerous medical conditions.

While the condition of extremely short stature is commonly called dwarfism, the term “skeletal dysplasia” refers to over two hundred disorders associated with much shorter than average height (5). Forms of skeletal dysplasia are
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If the disorder is inherited from biological parents, it does so as an autosomal dominant trait, meaning a copy of the gene with the mutation is only needed from one parent in order for the offspring to inherit and show the disorder (4). However, this scenario is seen only in about twenty percent of the roughly two hundred and fifty thousand people around the world living with Achondroplasia (6). The majority of cases (eighty percent) are caused by a randomly occurring mutation in the FGFR3 gene, known as a de novo gene alteration, which takes place for reasons scientists and medical professionals are unaware of at this point in time
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