Achondroplasia is a genetic disorder effecting bone growth. It is the most common form of short stature. The disorder causes your limbs to be disproportionately short. Achondroplasia can sometimes affect the brain and spinal cord if complications occur. Achondroplasia is inherited as a dominant trait but Achondroplasia is inherited in an autosomal pattern and is a dominant trait, but 80% of people with this disorder is only on account of abnormal growth of the limbs. Meaning neither of the parents had, or were carriers of Achondroplasia. Achondroplasia affects about 1 in every 40,000 births all over the world.
It affects males and females equally and there are no racial preferences. There is a 50% chance of the offspring of an affected parent and an unaffected parent inheriting this disorder. It’s hard to determine whether a child will be affected by this disease because it’s not always genetically inherited. Harmful substances or conditions, (i. e. alcohol, drugs, toxoplasmosis), during pregnancy can cause malfunction of the bone growth during development of the offspring. Symptoms of Achondroplasia usually first appear around birth and development. Physical symptoms of achondroplasia are abnormal sized limbs.
Most people with this disorder with have a long torso with shorts arms and legs. The intelligence and life span of individuals with achondroplasia is usually normal. A lot of people will have weak muscle tone. Achondroplasia commonly causes people to have breathing problems, in which breathing will stop or slow for a short period of time. Daily physical training is required in some cases, to build up muscle and strengthen bones. Language training and tutoring is sometimes necessary in young children as they may not develop the right skills. In my opinion, there is a fair amount of research that has gone into understanding achondroplasia.
There’s a variety of daily management activities for people with this condition. Unfortunately, there is currently no treatment that can cure this condition. Because we now know that achondroplasia is caused by an absence of growth hormones, scientists are exploring ways to create alternate growth factors which can bypass the missing receptor and lead to normal bone growth. Key points everyone should know about this condition: It is very hard to live with achondroplasia every day. The dysfunctional bone growth causes people with the condition to have shorter limbs.
It makes it harder for them to do things that other people may be able to, such as driving a car without special pedals and seats or reaching the light switch. Achondroplasia is the most common form of dwarfism. There is no cure or prevention for this disorder. Absolute prevention is not possible, there is always a chance you or your child could have this disorder. In a classroom, desks and chairs would have to be lower and the teacher may need a microphone to talk, if a child with achondroplasia was present. Rooms would need to be wheel chair accessible in the case that the child couldn’t walk.
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