Achondroplasia is an inherited disorder that causes short stature.
When a person has achondroplasia, abnormal cartilage at the growth plates of the bones cause short stature. Men with achondroplasia are usually less than 52-inches tall. Women are somewhat shorter.
The features of achondroplasia are: dwarfisma large head with a prominent foreheada low bridge of the nosedisproportionately short arms and legscurvature of the spine, known as kyphosisbowlegs
Achondroplasia is caused by a defective gene. It is one of the most common forms of dwarfism. This disease affects both sexes and people from all racial and national groups.
Achondroplasia cannot be prevented.
Achondroplasia is diagnosed by its characteristic appearance. It can be diagnosed before birth by pregnancy ultrasounds on the mother. DNA testing is possible, too.
People with achondroplasia may develop back or knee problems. They may also experience neurological problems because of spinal cord compression. Achondroplasia does not cause learning disabilities or shorten life span.
Achondroplasia is not contagious. It poses no risk to others. Affected people can pass on the condition to their children. Most cases of achondroplasia, however, are new cases in a family.
Surgery may be needed to treat spinal cord compression. It may be lifesaving in infants.
Some affected people have had surgery to lengthen their legs. Currently, there are no other specific treatments for achondroplasia.
Surgery carries the risks of bleeding and infection.
Following surgery for spinal cord compression, the person should have no further neurological problems.
During childhood, healthcare professionals monitor growth. The circumference of the head is measured to detect increased swelling or pressure in the brain. If there is an abnormal increase in a child's head size, further studies are done.
Physicians' Guide to Rare Diseases, Second edition, 1995, Dowden Publishing Co., p 8.
Beighton P: Inherited Disorders of the Skeleton. Churchill Livingstone, 1988.
