ACHONDROPLASIA
Last Updated : 12/31/2010
Ira Shah
More..
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.



Contributor Information and Disclosures

Ira Shah
Consultant Pediatrician, B.J.Wadia Hospital for Children, Mumbai, India


First Created : 2/20/2001

References

Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.