Achondroplasia By: Samantha Lenz and Courtney Miller

Background / History Achondroplasia also known as Dwarfism was discovered by ancient Egyptians. Egyptians with Achondroplasia were considered supernatural. Pierre Maroteaux was the first scientist to mention dwarfism as a form of genetic disease. He discovered the link between genetic condition and prenatal micromelic of the patients. This discovery is known as Lamy-Maroteaux Syndrome, a topic that is very important to dwarfism.

What is Achondroplasia? Achondroplasia is a genetic mutation also known as dwarfism. Commonly those with disorder are called: Small People

What happens to those who have it? People with achondroplasia have: o a normal sized torso o noticeably shorter arms and legs o usually larger heads o average height is just a little over 4 feet o spinal stenosis and curvatures There is no specific cure but surgeries can be performed to get rid of spinal issues.

What happens to those who have it continued... Life expectancy: o If they have the abnormal gene from both parents the child is not expected to live past a few months. o If they just have the abnormal gene from one parent they are expected to live a normal life span. There is no cure to Achondroplasia

How is it passed on? If a child gets the dominant trait from one parent, the child will have it. If one parent has Achondroplasia the child has a 50% of getting it and if both parents have it the child has a 75% chance of getting it. Most cases are spontaneous. meaning neither parent has it but gives birth to a child with it.

Achondroplasia in the Spotlight The TLC show Little People, Big World is a series that follows the six-members of the Roloff family. The TV show focuses on Matt and Amy a couple who has dwarfism and their four kids. Their sons Zach and Jeremy are twins but Zach has achondroplasia dwarfism and Jeremy is regular sized. Molly and Jacob are also both regular sized.

Fun facts Achondroplasia is a greek word meaning "without cartilage formation" it is the most common type of dwarfism, affecting 80% of these people most people are double jointed

Works cited "Health Guide." Achondroplasia. N.p., n.d. Web. 19 Feb "TeensHealth." Dwarfism. N.p., n.d. Web. 19 Feb