What is achondroplasia?
Achondroplasia is derived from Greek and it means "
without cartilage formation". Though patients with achondroplasia have cartilage, only a small amount of cartilage in the growth plates of the long bones turns into bone and short stature. It is the most common type of disproportionate short stature.
How does Achondroplasia occur?Achondroplasia is an autosomal dominant condition with the abnormal gene located on chromosome 4. However, 75% of cases are new mutations. The parents of children with achondroplasia resulting from a new mutation are usually of normal stature. Their chance of having a second affected child is extremely small. It has been observed that father above 40 years of age are more likely to have children with achondroplasia and other autosomal dominant conditions.