A bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult.
What causes it?
During early fetal development, much of your skeleton is made up of cartilage. Normally, most cartilage converts to bone. However, if you have achondroplasia, a lot of the cartilage doesn’t convert to bone. This is caused by mutations in the FGFR3 gene. The FGFR3 gene instructs your body to make a protein necessary for bone growth and maintenance. Mutations in the FGFR3 gene cause the protein to be overactive. This interferes with normal skeletal development.
Can it be prevented?
Most cases occur in families with no history of the condition, and can't be prevented. If a parent or parents have achondroplasia, a genetic counselor can give you information about the possibility of passing the condition on to your child.
How can it be detected?
-abnormally large head
After child is born:
-looking at his or her features
-x-rays to see the length of his or her bones
What are the treatment options?
There is no cure for this but they will give antibiotics for ear infections and they will do surgery for severe cases. Some doctors use growth hormones to increase the growth rate of a child's bones.