Who Discovered Achondroplasia ?

Who Discovered Achondroplasia ?

Achondroplasia is a genetic disease, but a rare one. It is the disease causing dwarfness. The patients suffering from this have short stature.

The male patients with the affliction will be around 4 feet 3 and half inches or 131 centimeters, and female patients will be around four feet or 123 centimeters.A group of scientist discovered the gene for achondroplasia in 1994. The group was headed by Dr. John Wasmuth. The team found that the cause of the disease is mutation of the fibroblast growth factor receptor 3 gene. It is found in human chromosome 4. Approximately in every 25,000 births, one is affected by this disease. It is a birth disease, and akin to many other congenital diseases.

In this disease, the cartilage formation is not properly carried out. This ultimately leads to much shortened bones due to which there will be short stature. Obesity, bowed legs, short fingers, and frequent infections are the other symptoms. Large head is also a common feature. This is due to abnormal skull structure due to which there will be recurrent ear infections and hearing problem.

It can be detected in the mother’s womb itself. For this, ultra sound and DNA tests are employed. The symptoms are megacephaly, smaller skull and vertebrae openings.
 
So far no confirmed treatment for the affliction is developed because it is a genetic disorder. But some techniques are available to improve the stature. The cardinal one is surgery to lengthen the limbs.

The shortest person with achondroplasia on records was Jyoti Amge of India. Her height was 58 centimeters or 23 inches. Her weight was 5 kilograms or 11 pounds.

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Who Discovered Achondroplasia