Physician.

Question 1: What is the history of the disorder? (dates and discoveries) Answer: -In 1994 a group of scientists lead by Dr. John Wasmuth discovered the cause of Achondroplasia - Achondroplasia affects the fobroblast growth receptor 3 gene which is now chromosome 4 in humans.
 * Physician **

Question 2: What is the diagnosis from a medical perspective? (how to test) Answer: - Achondroplasia can be detected before birth with a prenatal ultrasound. - Also, a DNA test can be performed before birth to detect homozygosity (when 2 copies of mutant genes are detected) this almost always leads to still births, or the child dying within the first year or spontaneous abortion. Question 3: What treatment options are available? Answer: - No known treatment options are available. - Human growth hormones do not help people with Achondroplasia. - Limb lengthening will make a person with Achondroplasia have longer legs and arms. Question 4: An ultrasound machine is an important diagnostic piece of equipment that is used during pregnancy and can help to detect wether or not an unborn child has Achondrplasia.