Achondroplasia is a unique genetic disorder that causes changes in bone growth. It’s actually the most common type of dwarfism that is known in humans today. When children with this genetic disorder are born, they will develop limbs that are much shorter than in proportion with their body. It is an inherited dominant trait, but 80% of the cases of Achondroplasia are actually because of new mutations. Here are some other important facts about this disorder.
1. It can be diagnosed early… very early.
Doctors have the ability to diagnose the presence of Achondroplasia while the child is still in the womb. The characteristic appearance of this disorder follows a certain chain of development and those with it tend to have a similar appearance throughout every stage of growth. The average height of a man with this disorder is about 4’4”, while women are typically about 3 inches shorter.
2. Achondroplasia is one of the first documented birth defects.
The name of this disorder actually means that the bones are without cartilage formation, but the problem is that the cartilage doesn’t actually convert into bone material, especially with the long bones of the body. It’s one of the first documented routine birth defects that medical science tracked and although it typically just affects the bones, it may also affect the central nervous system as well.
3. There are dramatic regional variations of Achondroplasia.
When the entire global community is considered, the chances of having a baby born with Achondroplasia are 1:25,000. Depending on where parents are in the world, however, has a direct effect on what the odds of having a child with this genetic order happen to be. In Denmark, for example, the odds of having a child with this disorder are actually about 1:6,500.
4. It causes amazing flexibility and amazing rigidity at the same time.
There are a number of joints that someone with Achondroplasia have that are very flexible. The joints of the knee, for example, are capable of extending beyond what would normally be considered their regular stopping point. On the other hand, the elbow joint is very rigid and difficult to control whatsoever when this condition is present. The same can sometimes be true for hip extension in certain cases.
5. There are no other deficits present in Achondroplasia.
Unlike other birth defects, Achondroplasia actually doesn’t cause any intellectual deficits in a vast majority of children who are born with the condition. This is despite the fact that the brain is enlarged and that there are other certain physical challenges that must be overcome. Although children with this birth defect develop more slowly than other children, they will eventually catch up as the years go by.
Achondroplasia can present certain challenges, but most who are born with this condition are able to live long, fulfilling, and happy lives. With regular physical therapy, lifestyle adaptations, and regular exercise, many of the symptoms can be controlled and even proactively treated.