What is achondroplasia?

If you are not sure you know what the stature of an achondroplasia patient looks like, look up TLC's "Little People Big World". This is a show about the lives of a family that consists of three out of six little people two of which are parents and one child. The picture to the left is of the family on Little People Big World. Here is the website f0r the show: http://tlc.discovery.com/fansites/lpbw/lpbw.html


In this picture, you can see a significant difference in height. An article I found explains that "The average height of an adult with achondroplasia ia 131 cm in males and 124 cm in females" ("Achondroplasia”, 2005, p.1). In another article, Parikh and Bara explain that patients with achondroplasia have a relatively large skull compared to the face (2009). People with achondroplasia also have a longer torso and shorter limbs. You can see this in the picture of the family from TLC's Little People Big World.


Do you know how achondroplasia is inherited?
In an article I read it states that "Most causes of achondroplasia occur sporadically and are the result of a new mutation in a sperm or ovum of one of the normal-appearing parents. The change of a new mutation rises with the age of the father" (Achondroplasia", 2005, p.3).

This is information that I did not know about before. When my niece, Madison, was born my family could not understand why she was a little person. We do not have a history of little poeple in our family. After reading this article, I discovered that it probably came from her father. She is the only child born my my sister and her husband in which he is an older age to be having his first child.

After writing about achondroplasia you may be thinking that they are just little people and have no other differences when compared to people who do not have achondroplasia. Unfortunately, this is false. Little people experience a lot of different medical problems. In short, they have spinal and joint problems from my common knowledge. Surgeries are also necessary when problems arise.


Achondroplasia. (2005, November 5). Retreived November 9, 2005, from
http://medicinenet.com/achondroplasia/article.htm
Parikh, S. & Bara, P. (n.d.). Achondroplasia. Retreived January 26, 2009, from
http://emedicine.medscape.com/article/1258401-print