Tuesday, March 30, 2010


Achondroplasia is a disorder of the bone growth that causes the most common type of dwarfism. Achondroplasia is an appearance that can be seen at birth. The symptoms that may be included are: bowed legs, clubbed feet, decreased muscle tone, abnormal hand appearance with spacing between the long and ring fingers, spine curvatures called kyphosis and lordosis, spinal stenosis, prominent forehead, shortened arms and legs, short stature, and a disproportional head to body size difference. Achondroplasia is from a group of disorders called chondrodystrophies or osteochondrodysplasias. Achondroplasia may be inherited as a dominant trait, which basically means that if the child gets the defective gene from one parent, the child will end up with the disorder. Now if one of the parents has achondroplasia, then the infant has a 50 % chance of getting the disorder. Now say both parents have achondroplasia, then the infants chances of getting the disorder increases to 75%. There have been most cases that appear as spontaneous mutations. This basically means that if neither one of the parents have achondroplasia, then they can still possibly give birth to a child with the disorder. Some tests that can be ran include: during pregnancy, a prenatal ultrasound may show excessive fluid surrounding the unborn infant, an examination of the infant after birth can show increased front to back head size, there may be signs of hydrocephalus, which means "water on the brain." Also x-rays of the long bones can show achondroplasia in the newborn infant. For people that wonder about treatments, there are no specific treatments for achondroplasia. Similar abnormalities should be treated when they are causing problems. Examples would be spinal stenosis and spinal cord compression. People that have Achondroplasia normally do not reach 5 feet in height. The intelligence rate is no different from a perosn without this disorder. Infants that have genes from both their parents do not live past a few months. Prospective parents should have genetic counseling as it may be helpful. Prevention is not always possible. You should contact the doctor if you have a family history of this disorder and you plan to have children.

Inc, A.D.A.M. (2010). Achondroplasia. Retrieved from http://health.google.com/health/ref/Anchondroplasia
Elsevier. (2010). Anchondroplasia. Retrieved from http://www.netterimages.com/image/12366.htm

No comments:

Post a Comment