Who Discovered Achondroplasia?

Primarily an autosomal dominant genetic disorder, achondroplasia is one of the common causes of dwarfism. Individuals suffering from this medical condition usually have short stature. For female patients, the average height is 4-feet and ½-inches or 123 centimeters. On the other hand, the average height for male patients is 4-feet and 3½-inches or 131 centimeters. Aside from highly valuable information like symptoms, causes and treatments, it is also nice to know something about its history including who discovered achondroplasia.

The Discovery of Achondroplasia

Who discovered achondroplasia? A group of scientists led by Dr. John Wasmuth discovered the cause of achondroplasia in 1994. According to their findings, this type of dwarfism resulted from the mutation of the fibroblast growth factor receptor-3 gene, which is part of the human chromosome 4. Today it affects at least one in every 25,000 live births.

Additional Facts and Other Interesting Information

In terms of epidemiology, achondroplasia is similar to many other congenital conditions such as achondrogenesis, multiple epiphyseal dysplasia tarda and osteogenesis imperfecta. In addition, it also shares similar presentations with other diseases like thanatophoric dysplasia as well as osteoporosis. Based on a number of studies, its prevalence is only 1.3 per 100,000 live births.

When the fibroblast growth factor receptor gene 3 undergoes autosomal dominant mutation, the cartilage formation of patients is greatly affected. This will then lead to severely shortened bones. Two other diseases have similar genetic basis, namely thanatophoric dysplasia and hypochondroplasia.

In terms of diagnosis, it is very much possible to detect the presence of achondroplasia with the help of prenatal ultrasound. To help identify if there is homozygosity, one must undergo a DNA test. It is also possible to use a skeletal survey to diagnose the problem. The signs include large intervertebral disk height, small skull base as well as narrow foramen magnum.

As of the moment, no one has yet to find any proven treatment against this medical condition. Good thing there are certain procedures available that can somehow enhance the overall appearance of patients. One of these is limb-lengthening surgery. The shortest person ever recorded with this condition was Jyoti Amge of India, who only stands at 58-centimeters or 23-inches tall and weighs around 5-kilograms or 11-pounds.

The other visible signs and symptoms of this disease are hypotonia or low muscle tone and slow motor movement. Most of the time, individuals suffering from this medical condition are obese, mainly because of their short stature. For children, otitis media and other middle ear infections are always a problem, all of which are caused by their abnormal skull structure.

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