Achondroplasia

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Achondroplasia

  1. 1. Achondroplasia :]<br />By: Christina Starr Shillingburg and Rickelle Renae Ford<br />
  2. 2. What is Achondroplasia?<br />Achondroplasia is a genetic (inherited) condition that results in abnormally short limbs on the body. This is most common. It also makes your head size not match your body size. In meaning your head is bigger than it should be.<br />
  3. 3. Symptoms<br /><ul><li>Abnormal hand appearance with persistent space between long and ring finger.
  4. 4. Bowed legs.
  5. 5. Decreased muscle tone.
  6. 6. Prominent forehead.
  7. 7. Spinal stenosis.</li></li></ul><li>Currently there is no way to prevent or treat Achondroplasia, since the majority result from unexpected mutations. The treatment they do is focused on social and family support.<br />Treatment<br />
  8. 8. What can be done for people who have this disease?<br />Children and adults with achondroplasia can live normal lives provided they receive attention, informed care by the physicians and parents. They must be monitored at all times. Surgeries is also determined when spinal stenosis causes symptoms, which tends to be evident in young adults.<br />
  9. 9. The diagnosis of achondroplasia can be based on the typical physical features, the hallmarks of achondroplasia, evident at birth. Characteristic features are also seen by X-ray, ultrasound, and other imaging techniques. With ultrasound, the diagnosis can sometimes be strongly suspected before birth.<br />How to get Diagnosed…<br />
  10. 10. What if two people with achondroplasia have children?<br />People with achondroplasia sometimes have children together. If so, each parent has a 50/50 chance of passing on the gene. Thus, with each conception, there is a 25% chance for an average-size child, a 50% chance for a child (like them) with achondroplasia and a 25% chance for a conception with two achondroplasia genes.<br />
  11. 11. What gene causes achondroplasia?<br />Achondroplasia is caused by mutations in the FGFR3 gene which codes for a protein (fibroblast growth factor receptor 3) that is important for the maintenance of bone and brain tissues. <br />
  12. 12. Achondroplasia is a genetic disorder of bone growth. Achondroplasia is the most common cause of short stature with disproportionately short limbs. The appearance of the person with achondroplasia is characteristic. Intelligence is normal in people with achondroplasia. Complications of achondroplasia can affect the brain and the spinal cord. Achondroplasia is inherited as a dominant trait but 80% of cases are due to new mutations (neither parent has achondroplasia). Achondroplasia can be diagnosed before birth. <br />At A Glance<br />
  13. 13. Fin :]<br />

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