What is Achondroplasia

If you have ever seen an adult who is about four feet tall, the odds are good that she or he is subject to a birth defect called achondroplasia. The signs of this birth defect may be detected early on during an ultrasound examination when bones do not appear to meet the growth markers expected for the point of gestation. After birth, the following tell tale signs are observed:

    The infants muscles are not as well developed and strong as those of other infants of similar age. This is the reason why infants with this birth defect will lag behind their peers when it comes to reaching such milestones as holding their heads up, sitting, and also walking.

    If the infant does not receive proper back support when being transported, the odds are good that she or he will begin to develop what might be termed a smaller version of a dowager’s hump. or kyphosis.

    During the toddler years, when the child will put more weight on its knees and angles, the legs will tend to bow out while the lower spine will alter its curvature.

    As the child becomes older, she or he will complain from recurring back pain and also leg pains. This is associated with the pressure generated on the weakened joints but also with the spinal cord that is attempting to rest within the awkwardly curved spine.

While there is no cure for the condition, the effects of this birth defect can be lessened with the help of surgery. Furthermore, with physical therapy, exercise regimens, and also nutritional counseling, children with achondroplasia will receive the help needed to improve their muscle tone and also control their weight gain, so as to not put extra pressure on the already weakened joints.

Causes

At this point in time it is theorized that the birth defect is due to a gene mutation but that it may also be inherited if one of the parents suffers from the condition. Interestingly, inheriting the birth defect is far rarer than the mutation of the otherwise healthy gene. The severity of the birth defect is hard to predict.

Some forms are so severe as to be deadly to the child, while others will require multiple surgeries just to keep an acceptable form of quality of life for the child.

Still others will only have minor inconveniencies and will continue on to live a healthy, full life, albeit with a head or two shorter than their peers. Since this birth defect is largely due to a gene mutation, there is precious little that may be done to avoid it, but genetic counseling prior to conception will adequately predict the odds of a childs inheriting the disease.

Please remember that there are other conditions that may cause a short stature in children and not all of them can be traced back to genetic mutations. Thus, proper diagnosis is vital to ensure that an affected child will receive the treatment needed to remain healthy and to learn to live with this birth defect in the best ways possible.