What Is Achondroplasia?

Achondroplasia is a genetic pattern inherited in a dominant pattern. It has one mutated gene in each cell that has the ability to cause achondroplasia however in most cases it streams from having a mutation randomly occur in the FGFR3 gene later in life. FGFR3 protein has many versions, which are found in different areas of the body. Many of these proteins are found in the cells that forms bone. FGFR3 is believed to regulate bone growth. Age can effects the mutation, therefore someone who develops achondroplasia later in life could pass a less severe case to their children. “Achondroplasia means without cartilage formation”(3), and is a Greek word. Achondroplasia is actually the most common type of dwarfism effecting almost 80% of all little …show more content…
FGFR3 works to maintain the structural integrity inside the connective tissue. ACH mainly affects the skeletal system, which is why people who inherit the mutated FGFR3 gene are smaller than the average person. ACH only affects two organs in the body which are the bone and cartilage. This affects the skeletal system because, it makes the cartilage unable to convert to bone tissue. People with ACH usually have short arms and legs. Without having ACH your cartilage would be able to convert to bone tissue,making you able to grow to be the size of an average person which would be anywhere from 5-10 feet in the United States. There are many different symptoms people who have ACH may have here are just a few symptoms one may have if inheriting ACH. Some would be that they have a much shorter stature than someone who doesn 't have ACH who is the same age and sex. They typically will have a very short upper arm and thighs. They have short fingers and on some people the ring and middle fingers may extend in opposite directions of each other. Their head usually looks big compared to their body, will usually have a larger forehead, and have undeveloped spots on their face. They have less muscle tone, spinal stenosis, have a hard time bending their elbow, are often over weight or obese, and they have abnormal curving of the spine.Some doctors believe drug therapy, surgery and rehabilitation, genetic counseling, and palliative care could help people with ACH. ACH may resemble other conditions. And there are a few different complications someone with ACH may go though, one being clubbed feet, another would be the buildup of water inside the brain. However there is no proven treatment or cure for ACH. Most doctors will wait and address issues when they arise. For example many people with ACH suffer from spinal stenosis, and for some its worsening. A doctor then may