Achondroplasia

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Achondroplasia

Achondroplasia, also known as "short limb dwarfism" or "chondrodystrophia fetalis," is a disease in which there is a disorder in bone growth. It is one of the oldest birth defects and it happens for many different reasons. For some, it is inherited from the family or from their ethnic background and for others, it could just be genetic medical conditions.

Many times, this disease is caused by an abnormal gene passed from one parent to the child. In most cases the parents are average size, but the gene is a new mutation. Most of the time the parents have no other children with achondroplasia and there is a very small chance of having another child with this condition.

Some of the causes for achondroplasia are known and can be treated, but for most cases there is still research needed to be done. A couple of groups working on research for this disease are the Human Growth Foundation, the Little People of America and the Short-Stature Foundation.

Achondroplasia affects about one child in every twenty-five thousand to forty thousand births. A person who is affected by it will have a normal torso and short arms and legs. The upper arms and thighs are more shortened than the forearms and the lower legs. The head is usually somewhat larger than normal. The forehead is larger than average and the nose is flat between the eyes. The teeth are usually crowded and the upper and lower jaw are poorly aligned with each other.

A child with achondroplasia usually has a straight upper back with a curved lower spine. They tend to walk bowleged and the feet are short, wide and flat. The hands are very short with stubby fingers that can easily bend backwards because of their weakened
joints. Achondroplasia does not affect the brain or intelligence.

Death during pregnancy and birth is not rare for children with achondroplasia. This is because of the abnormalities of the bones in the upper neck and spina...