What Is Achondroplasia ?

What Is Achondroplasia ?

Achondroplasia is a disease with shortness in appearance. It is a rare disease, and either inherited or due to gene mutation.

The cartilage in achondroplasia patients does not form properly, and that is the sole cause of the ailment. Their bones do not grow to normal size as in other people. Hence, they do not grow more than four feet in height.If only one parent has it, there is 50 percent chance of the passing it on to the baby. If both the parents have it, there is only 25 percent chance for the offspring to get the disorder.

Sometimes, even if one of the parents has it, the offspring does not appear to possess it. They do not show any outward symptoms of the disease. That means that they are not carrying the particular gene.

Its occurrence is one in 20,000 people, or one in 40,000 births. It will be recognized in the pregnancy itself. There will be deformity of the fetus itself. In adults, it is marked by shortness of stature and bowed legs. Added to this, there will be a large head, small nose, curvature of spine, short fingers and toes. It is not dangerous to life.

The common problems of the disease are delayed growth in childhood. There will be infections with regular recurrence, particularly ear infections.

Doctors now treat achondroplasia patients either with surgery or with medication to spur normal growth in the patients. In the surgery, bone is broken and stimulated for regrowth.

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What Is Achondroplasia