by: Hannah Brinker
Description: This is a picture of a family with Achondroplasia. This is also known as dwarfism. You can see that this disorder makes you shorter than normal. Everything else in and on your body is smaller.
Image copyright: www.commonwealthadoption.org/images/johnston.jpg
The disease is achondroplasia, also known as dwarfism. A person can get achondroplasia by abnormal bone growth. When a person gets this disease, they have short arms and legs, a large head, and characteristic facial features. Anybody can be born with the disease, but it doesn’t occur more to one gender or the other. It is more common in children that have older fathers. The gene for dwarfism was discovered in 1994 by a team of scientists at the University of California in Irvine. “As early as 1912 it was noted that new cases were more often last-born than first-born children. This fits with the fact that the chance of an achondroplastic birth has been shown to increase with paternal age (age of the father).” (2008) Achondroplasia occurs in approximately 1 out of every 25,000 births.
Problems with the disorder
The symptoms of this disorder are abnormal hand appearance with persistent space between the long and ring fingers, bowed legs, decreased muscle tone, disproportionately large head-to-body size difference, prominent forehead (frontal bossing), shortened arms and legs (especially the upper arm and thigh), short stature (significantly below the average height for a person of the same age and sex), spinal stenosis, spine curvatures called kyphosis and lordosis. (University of Maryland Medical Center, 2008) Achondroplasia affects all the body systems.
Genetics of this disorder
This disorder is inherited by the baby getting the gene from the mother or father and having it be a part of them when they are in the womb. “Achondroplasia may be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant's chances of being affected increase to 75%.” (A.D.A.M., 2008) Achondroplasia affects both males and females. Mutations in the FGFR3 (fibroblast growth factor receptor 3) gene causes achondroplasia.
Treatment
There is not a certain treatment that can cure this disease.
Prevention
“Genetic counseling may be helpful for prospective parents when one or both have achondroplasia. However, because achondroplasia most often develops spontaneously, prevention is not always possible. Examination of the infant shows increased front-to-back head size (occipital-frontal circumference). There may be signs of hydrocephalus associated with enlargement of the chambers within the center of the brain (ventricular dilatation). X-rays of the long bones can demonstrate achondroplasia in the newborn.” (University of Maryland Medical Center, 2008) So if you get an X-ray you will be able to see if your child will inherit the disorder from either or both parents.
