One of the oldest known birth defects is achondroplasia syndrome. It is depicted in art as far back as Egyptian times. It is a form of dwarfism and it affects one in approximately 25,000 births. The name comes from the Greek word achondroplasia, which means “without cartilage formation”. It is now known that cartilage is formed by those diagnosed with achondroplasia, but it doesn’t change in to bone at the same rate as those who are do not have this syndrome.
Characteristics of a person with achondroplasia syndrome:
Risk factors that contribute to babies being born with achondroplasia include one or both parents having the syndrome, or a father that is 40 years old or over. It is possible to diagnose before birth because it occurs from a chromosomal abnormality. After birth, it is diagnosed by a physical examination and X-rays.
There is no current treatment for this form of dwarfism. There have been limited results with growth hormone treatments. Health and skeletal problems that are associated with the syndrome are treated individually as they occur. Some problems, like abnormalities in the opening at the base of the skull, that cause pressure on spinal cord, can be life threatening.
There are numerous support groups and foundations around the country for achondroplasia syndrome. Research continues to learn more about this form of dwarfism and to help those with it live a fulfilling healthy life.