Achondroplasia - Dwarfism
Achondroplasia does not just mean you are short but affects your body in many ways . The most common symptom and most easy to see is the shortened limbs. Other include short fingers, limited mobility around the elbow, the development of bowed leg, and a swayed lower back threw the progression of life. This an also cause death is a very severe and cause premature death with a like expectancy of 10 years less then a normal person.
The cause of Achondroplasia is a mutation in the FGRF3 gene. FGRF3 gene controls the protein of growth and maintenance in the body. The mutation of the gene causes it to be overactive. The mutation causes it to fail in turn cartilage into bone for growth. This mutation is found on gene 4. It can be caused by mothers eggs or fathers sperm to have a defect
There is no true cure however work is being done. You are able to have surgery for spinal stenosis. This is pressure on the nerves of the persons back that can be very painful. There new forms of treatment being done such as growth hormone on children however the effects of this new treatment are unknown so far.
How is it diagnosed
It can be diagnosed before or after the birth of a child. Before birth the doctor can give you a ultrasound to see the development of the baby. If he sees a abnormal large head he will have reason to believe that the child has Achondroplasia. He then will test the amniotic fluid for FGFR3. If it comes out to be positive then the child will have Achondroplasia
When the child is born and it is still unknown he will give x rays to measure the length of the babies bones. They then wil have a blood test for FGFR3.
Achondroplasia is inherited at a very high rate. Because the disorder is a dominant that means that 50 percent of a chance that the offspring will have this disorder. If both parents have the disorder your have a 75 to 100 chance given then phenotype is AA or Aa. It is a sexlinked disorder found on the x chromosome that causes both parents can pass it down.
Type of people
There is no true type of race or ethic group that has this disorder. It also has nothing to do with location. it is truly a random act of nature or by a parent passing down Achondroplasia. This disorder does affect 1 in 25,000 people in the world.
What I Learned
I Learned that Achondroplasia is a type of dwarfism. It is a disorder that has many causes such as a simple birth defect to it being passed down to your children. It can be as simple as having short limbs but can Also effect there lower back and cause them to have sever pain is some cases. However having this disorder doesn't always determine how you make your life to be. That many can live a normal life style even with there given limitations.
Emily’s Story: Little Person, Big Life (Dwarfism)
Achondroplasia: Genetic Causes