Achondroplasia Research Paper
Cause of the Disorder
There are several potential causes of achondroplasia. The first is a genetic mutation on chromosome 4 of the fibroblast growth factor receptor 3 (FGFR3). Scientists do not know why this mutation occurs. The disorder can also be passed on from an affected parent. If one parent has the disorder they have a 50% chance of having an affected child. If both parents have the disorder they have a 50% chance of having an affected child, a 25% chance of having a normal child, and a 25% chance that they will have a child that inherits one abnormal gene from each parent resulting in severe skeletal abnormalities that lead to early death for that child. (1, 2)
Statistics
Affects about 1 in 15,000 to 1 in 40,000 live births every year and can affect either sex. It can occur in all races and equally affects men and woman. About 10,000 people in the US are affected. About 80% of all little people have achondroplasia, about 190,000 people worldwide have the disorder, and 150,000 of those people have achondroplasia. (2, 3) …show more content…
Symptoms/Features of the Disorder
There are numerous physical features that a person with the disease will display.
Hallmarks of the disorder are abnormal hands with a space between the long and ring fingers, bowed legs, and decreased muscle tone. They will have disproportionately large heads compared to their bodies and very prominent foreheads. They will also have shortened legs and arms with short stature, spinal stenosis, and spine curvatures called lordosis and kyphosis.
(4)
Disease Diagnosis
The diagnosis can be based on the physical features that are evident at birth. Before birth, fetal ultrasounds can also show the physical features. Diagnosis before birth is also done by examining the body cells of the baby; a DNA test of those cells can confirm or deny if the child will have achondroplasia when put through a procedure called chorionic villus sampling. (5)
Treatments/ Cures/ Preventions
Although there is no current treatments that can cure achondroplasia, there are treatments that can help and cure the health conditions that result from the disease. Many people and families with the disease also focus on social and family support. (6)
Life with the Disease
People with the disease have a normal life expectancy. They buy their clothes from normal stores and get them altered, but occasionally they shop in kid stores. Affected people are always confronted with shelves they can’t reach and doors they can’t open, however they are not embarrassed to ask for help. They live in normal sized houses, and use step stools where needed, and have the door handles and locks lowered for easy access. (7, 8)
Interesting Facts
TLC’s show “Little People Big World” follows the Roloffs, a family dealing with achondroplasia. Matt and Amy, the parents, are both affected and they have twin boys one who is affected and one who isn’t. They also have a daughter and another son who are both normal and not affected. The show shows how these little people live their everyday lives and the challenges they go through. (9)
There are several potential causes of achondroplasia. The first is a genetic mutation on chromosome 4 of the fibroblast growth factor receptor 3 (FGFR3). Scientists do not know why this mutation occurs. The disorder can also be passed on from an affected parent. If one parent has the disorder they have a 50% chance of having an affected child. If both parents have the disorder they have a 50% chance of having an affected child, a 25% chance of having a normal child, and a 25% chance that they will have a child that inherits one abnormal gene from each parent resulting in severe skeletal abnormalities that lead to early death for that child. (1, 2)
Statistics
Affects about 1 in 15,000 to 1 in 40,000 live births every year and can affect either sex. It can occur in all races and equally affects men and woman. About 10,000 people in the US are affected. About 80% of all little people have achondroplasia, about 190,000 people worldwide have the disorder, and 150,000 of those people have achondroplasia. (2, 3) …show more content…
Symptoms/Features of the Disorder
There are numerous physical features that a person with the disease will display.
Hallmarks of the disorder are abnormal hands with a space between the long and ring fingers, bowed legs, and decreased muscle tone. They will have disproportionately large heads compared to their bodies and very prominent foreheads. They will also have shortened legs and arms with short stature, spinal stenosis, and spine curvatures called lordosis and kyphosis.
(4)
Disease Diagnosis
The diagnosis can be based on the physical features that are evident at birth. Before birth, fetal ultrasounds can also show the physical features. Diagnosis before birth is also done by examining the body cells of the baby; a DNA test of those cells can confirm or deny if the child will have achondroplasia when put through a procedure called chorionic villus sampling. (5)
Treatments/ Cures/ Preventions
Although there is no current treatments that can cure achondroplasia, there are treatments that can help and cure the health conditions that result from the disease. Many people and families with the disease also focus on social and family support. (6)
Life with the Disease
People with the disease have a normal life expectancy. They buy their clothes from normal stores and get them altered, but occasionally they shop in kid stores. Affected people are always confronted with shelves they can’t reach and doors they can’t open, however they are not embarrassed to ask for help. They live in normal sized houses, and use step stools where needed, and have the door handles and locks lowered for easy access. (7, 8)
Interesting Facts
TLC’s show “Little People Big World” follows the Roloffs, a family dealing with achondroplasia. Matt and Amy, the parents, are both affected and they have twin boys one who is affected and one who isn’t. They also have a daughter and another son who are both normal and not affected. The show shows how these little people live their everyday lives and the challenges they go through. (9)