History Of Achondroplasia

History Of Achondroplasia

Achondroplasia is a genetic disorder affected the growth of bones. It leads to a type of dwarfism where the people afflicted by the condition are of small stature.

However, the gene causing the disorder was only discovered in 1994 by Dr. John Wasmuth. While working with his colleagues, Wasmuth discovered that a mutation in the fibroblast growth factor receptor 3 gene present in chromosome 4 caused this genetic condition.However, if you look into the history of achondroplasia, you will realize that the disorder has been present for eons. In 1912, doctors found that achondroplasia was more prevalent in the last born child rather than the first born. This led to conclude that the chances of getting achondroplasia increased with the father's age.

There is mention of achondroplasia in ancient Egypt. In fact, people suffering from achondroplasia were used as subjects for art during that period. Archaeologists have discovered two figurines that show the features of achondroplasia. Also, in a temple near Thebes in Egypt, a relief shows an Egyptian queen and her daughter, and they both have achondroplastic features. Even ancient Egyptian gods like Ptah and Bes have been depicted as suffering from achondroplasia.

In fact, throughout history, in the ancient times, many superstitions have been associated with achondroplasia. When a child was born with this condition, it was assumed that it had occurred due to activities of demons, it was a punishment meted out by gods or due to result of the movements of the stars and moon.

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History Of Achondroplasia