Achondroplasia

Introduction
Have you ever seen small children with abnormal growth of legs and arms, their heads are also not in normal shape. These children are suffering from achondroplasia. Achondroplasia is a Greek word which means “without cartilage formation”. These small children are born with abnormal growth of body. The abnormal growth of the bones can cause other several diseases. Sometimes the spines are also curved. The people affected by achondroplasia, usually reach a maximum height of 4 inches. However their physical abnormality does not mean that they have lower level of IQ. These physical abnormalities can lead to some other infections such as infection of ear or it may cause breathing problem.

Causes

This is a genetically inherited disease. Scientists are now working to detect achondroplasia as early as in the uterus. Achondroplasia is the condition when the bones or the cartilage of bones does not develop in a normal condition. One of the genes in the chromosomes is abnormal and that can cause achondroplasia. The major cause of achondroplasia is that of inheritance, if the child’s mother or father has the disease the child may suffer from it too. If both the parents have the disease then the chances are 50 % more, for the child to develop the disease.

In most of the cases, the condition is not inherited but it results from the mutation taking place in the sperm or egg cell. This mutation can take place in any child regardless of the parent’s medical history. Even normal parents can have children with achondroplasia. What really happens is that the cartilage cells are produced less in the bones as a result the bones don’t grow normally and it causes dwarf ness. If the child inherits one abnormal gene it can cause the achondroplasia but if the child inherits abnormal genes from both the parents, there are 25% chances that this may lead to severe bone and skeletal disorder which can even cause death of the young one.

During the development of the fetus, the cartilage is developed in the bones but if something goes wrong, the bones are unable to produce the cartilage which results in abnormal growth of bones especially the larger bones such as legs and arms. When cartilage is not present it will have no further growth because the cartilage is responsible for growth in children. It is the site where the calcium is deposited later and makes the bones firm and strong. This whole procedure results in dwarfism or abnormal growth of body. The condition of achondroplasia prevents the bones to grow as of normal standard length. The frequency is normally 1 in 20,000 births.

Risk Factors

The risk is more for the children of parents who are already affected by achondroplasia. Children born to fathers above the age of 40 are more likely to develop achondroplasia. In 80% cases it is caused by gene mutation.

There are no boundaries of color, cast and creed to be affected by achondroplacia.

Symptoms & Signs

The children born with achondroplasia are usually found to have curvature in straight bones.
They are dwarfs (even at the time of birth it can be noticed).
The size of the head is abnormally big as compared to normal children, which also indicates that the child may be suffering from hydrocephalus.
The bones of arms and legs are shorter than normal size.
They have short stature.
The nose is generally flat and the fore head is large and prominent.
Their upper arms and leg bones are relatively shorter than the fore arms and legs however their upper body is normal.
The fingers of the hands are also found to be slightly arched.
After some time the child may develop hunch back.
The child can not even straighten the arms.
Jaws are small.

Diagnosis
The characteristics of achondroplasia are so prominent that the disorder is diagnosed at the birth only. Now a days research is going on and the condition may be discovered while the fetus is still in the uterus. The diagnosis can easily be made on the basis of the presence of the symptoms in a child. Physical examination and x-rays can also help.

Prevention
Early marriages can prevent from this abnormality of bones in their off springs. The babies with achondroplasia should not be kept in umbrella type strollers. Genetic counseling to parents can be of some assistance.

Treatment:
No treatment is available as yet, to reverse the effects of achondroplasia because the occurrence has taken place long before the birth of the child. If the child has ear infection because of achondroplasia, it needs prompt treatment as hearing can be lost due to it. There are several research centers which are trying to find out the ways of treatment of achondroplasia. In some cases when the pain is severe, surgery can be done.

Primary Natural Supplements
Vitamins

Vitamin D

Minerals

Secondary Natural Supplements
Herbs

Devil’s claw

Dietary Guidelines

Maximize the food intake which contains calcium.
To promote proper growth nutritional facts should be kept in mind.
Use milk and orange juices as they have a lot of calcium in it.

Home Care Suggestions

Help your child psychologically so that he or she may not become nervous because of the defects in the body.
Encourage them, whatever they do.
Physical activities can be tiring for them try indulging them in mental activities; keep in mind they are not mentally disabled.

Mind/Body Considerations
Help the patient to exercise a little. Help these people to have a contented life. Make them realize that they are just as normal as anyone else and they can perform their small routine work by themselves. Build confidence in them


Contact Us Shipping & Return Policy	Shopping Basket Shop by Store Shop by Brand	About Us Privacy Policy Resources

© Copyright 2005 - 2012 PillPod.com
Statements made, or products sold through this web site, have not been evaluated by the Food and Drug Administration. They are not intended to diagnose, treat, cure, or prevent any disease. You should carefully read all product packaging and labels. If you have or suspect that you have a medical problem, promptly contact your medical professional. We are not responsible for incorrect or outdated product descriptions and/or images.