What is an Achondroplasia?

April 22 22:49 2019 Print This Article

It is defined as a condition in which there occurs a dwarf which has a short stature. The average height is 131 cm of the male and the height of female is 123 cm. Their prevalence is 1 in 25000. It is the autosomal dominant condition. It is the genetic disorder and is also known as the achondroplasia dwarfism. As reported by some news channel the 15 year old girl from our country became the shortest person on our planet. Her name is Jyoti Amge and she was suffering from achondroplasia. She is 58 cm tall and weighs around 5 kilogram. This condition was present in the pre Columbian new world and came to known from the skeletal remains. The people in the old Egypt who were affected from this condition were known as the nemew. They were considered intelligent and hold many offices.

A few of them occurred in the elaborate tombs telling about the status of importance and wealth. The slow motor movement and the low muscle tone which is referred as a hypotonia was a good indicator of this condition. The low muscle tone result showed that there was no walking between 2 to 3 years. As the height is short it is associated with the obesity. The middle ear infections which are known as the otitis media are quite common in the children. This occurs due to the abnormal drainage of tube from the middle ear to throat as a result of abnormal skull structure. There is a surgical procedure which helps in the drainage in which tubes are placed in the ears. There is an overcrowding of the teeth which is related to the abnormal skull structure. It leads to the malocclusion which makes the oral hygiene difficult.

What is the epidemiology of Achondroplasia?

It is the congenital condition which is similar to the other conditions like osteogenesis imperfecta, osteopetrosis, dysplasia and multiple epiphyseal dysplasias. So, the prevalence is difficult to estimate as the changing and subjective diagnostic criteria are not static. A long and detailed study was done in the Netherland which showed that the prevalence at the time of birth was 1.3 per I lac births. Another story gave an entirely different result which showed the prevalence at 1 per 10000 births.

What is the treatment of Achondroplasia?

There is no treatment available for this condition. The human growth hormones are not of much use in this case. There is a surgery of limb lengthening which increases the length of legs and arms of the people suffering from this condition.

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