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Cancer Treatment & Achondroplasia

Achondroplasia is a form a dwarfism associated with a genetic mutation. Many causes have been implicated in the gene mutation and resulting disease, including the use of cancer treatment or chemotherapy during pregnancy.

  1. Signs and Symptoms of Achondroplasia

    • Children with achondroplasia have short arms and legs with a relatively normal-sized torso. They also have a large head and prominent forehead that are often the result hydrocephalus or excess fluid in the brain.

    Genetic Causes of Achondroplasia

    • Most people with achondroplasia have a genetic mutation in the fibroblast growth factor receptor 3. This gene plays a critical role in the regulation of bone growth.

    Known Risk Factors

    • Achondroplasia is the result of a spontaneous gene mutation. Some established risk factors include having an affected parent and advanced maternal age.

    Factors Not Associated

    • Multiple risk factors have been examined as potential risk factors for achondroplasia with no association found including maternal obesity and diabetes and exposure to chemicals, and illicit and prescription drugs.

    Chemotherapy as Risk Factor

    • Maternal chemotherapy has been implicated in the development of achondroplasia. However, a 2004 paper by Cardonick and Iacobucci was unable to find any association between cancer treatment in pregnant women and the development of achondroplasia.

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