Achondroplasia Essay
Achondroplasia is best described as short-limbed dwarfism. This means that certain parts of the body are average sized, like the sternum, while others such as the legs are smaller than average. During early fetal development, cartilage is developed as the skeleton is. However, people born with Achondroplasia were unable to have their cartilage develop into bone before birth. The average heights for both males and females are under 4 feet 6 inches. However, people born with this disorder are usually not mentally disabled and can perform just as average sized people.
The achondroplasia diagnosis is done in three parts. The first is a physical diagnosis, where doctors look at the person in question for abnormal qualities in appearance. The second …show more content…
would be an X-ray where the spine, arm and leg bones are studied. Last, a genetic test for the gene FGFR3. 99% of people with achondroplasia can be proven with genetic tests. Despite the occasional pains and surgeries that a person with achondroplasia might experience, many are able to live what we deem as normal lives. They can work, make their own meals, and do everyday things such as using the bathroom or take out the trash.
Two children. The one on the left is average sized. The one on the left is a "little person" with achondroplasia
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Blog Two: Genetic Factors
The FGFR3 gene, also known as fibroblast growth factor receptor 3, is responsible for making protein for the embryo. This protein is to be contributed to the construction of both bone tissue and brain tissue. It is believed that too much protein is produced at once from this gene, and that causes for a stutter in bone production.
This type of dwarfism is the most seen. While it can be passed through genetics, it is not the only option. When inherited from a parent, it is an autosomal dominant disorder. This means that only one parent needs to carry the gene for the child to get it. However, most people get it from a defect. There is a mutation present in either the sperm or the egg before fertilization happens. If the parents do not have achondroplasia, it Is unlikely that the couple would have more than one child with the illness. If both parents have the condition and carry the gene, the child is going to have more negative effects.
The condition is usually first seen through an ultrasound while the mother is pregnant. The doctor or nurse will be able to point out the enlarged head. Then, if needed, fluid will be taken from the amniotic sac. There are two tests, which are amniocentesis and chorionic villus sampling (CVS), which can determine if the child has the mutated gene or not.
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Blog Three: Risks
Achondroplasia is the most-common type of dwarfism.
It occurs in 1 to 15,000 newborns. Risks that come along with Achondroplasia include brain abnormalities and frequent ear infections. Hypotonia, which is a weakness in muscle tone, may cause delay in motor functions such as …show more content…
walking.
As previously mentioned, a child who got the gene from both parents will suffer different struggles.
For example, they may have even shorter bones and a rib cage that is drastically underdeveloped. Most deliveries of these children end with a stillborn or premature death associated with respiratory failure. While most adults with the condition can live within a normal life span, risks of death are increased during the first year of life. During vaginal birth, there is an increased chance of internal bleeding of the infant’s head. This is due to an enlarged head, and causes pressure on the brain stem. Women with Achondroplasia must take special precautions while pregnant due to their small pelvises, and will need to give birth via cesarean section.
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Blog Four: Associated Illnesses
A major illness for people with Achondroplasia is apnea, which is shortness of breath or short stoppings. Obesity. Ear infections. Back pains due to kyphosis. Spinal Stenosis is possible, which means that the spine will be pinched. Because of this, it would be difficult for adults with this illness to walk without weak legs. A rare effect would be a build-up of fluid in the brain. When it does occur, it occurs in children and does lead to future brain abnormalities. Because sleep apnea is a common problem, surgery to remove tonsils and adenoids may be in place to assist the individual.
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Blog Five: Physical Features/ Attributes
Long trunk (chest and stomach). Enlarged head, known as frontal bossing. Short thighs and upper arms. The hands will have a trident appearance due to the ring and middle fingers slightly angling away from each other. Adult men on average will be 4 feet 4 inches, while adult females may reach 4 feet 1 inch. Their elbows do not have a range of motion like that of an average sized person. Hip extension may also be limited. However, the knees are known to bend forward more than those of a normal person. Bowed legs are very common. The curve of the spine over time may change, which is knowns as Kyphosis. They usually have short fingers and toes.
The achondroplasia diagnosis is done in three parts. The first is a physical diagnosis, where doctors look at the person in question for abnormal qualities in appearance. The second …show more content…
would be an X-ray where the spine, arm and leg bones are studied. Last, a genetic test for the gene FGFR3. 99% of people with achondroplasia can be proven with genetic tests. Despite the occasional pains and surgeries that a person with achondroplasia might experience, many are able to live what we deem as normal lives. They can work, make their own meals, and do everyday things such as using the bathroom or take out the trash.
Two children. The one on the left is average sized. The one on the left is a "little person" with achondroplasia
________________________________________________________________
Blog Two: Genetic Factors
The FGFR3 gene, also known as fibroblast growth factor receptor 3, is responsible for making protein for the embryo. This protein is to be contributed to the construction of both bone tissue and brain tissue. It is believed that too much protein is produced at once from this gene, and that causes for a stutter in bone production.
This type of dwarfism is the most seen. While it can be passed through genetics, it is not the only option. When inherited from a parent, it is an autosomal dominant disorder. This means that only one parent needs to carry the gene for the child to get it. However, most people get it from a defect. There is a mutation present in either the sperm or the egg before fertilization happens. If the parents do not have achondroplasia, it Is unlikely that the couple would have more than one child with the illness. If both parents have the condition and carry the gene, the child is going to have more negative effects.
The condition is usually first seen through an ultrasound while the mother is pregnant. The doctor or nurse will be able to point out the enlarged head. Then, if needed, fluid will be taken from the amniotic sac. There are two tests, which are amniocentesis and chorionic villus sampling (CVS), which can determine if the child has the mutated gene or not.
__________________________________________________________________
Blog Three: Risks
Achondroplasia is the most-common type of dwarfism.
It occurs in 1 to 15,000 newborns. Risks that come along with Achondroplasia include brain abnormalities and frequent ear infections. Hypotonia, which is a weakness in muscle tone, may cause delay in motor functions such as …show more content…
walking.
As previously mentioned, a child who got the gene from both parents will suffer different struggles.
For example, they may have even shorter bones and a rib cage that is drastically underdeveloped. Most deliveries of these children end with a stillborn or premature death associated with respiratory failure. While most adults with the condition can live within a normal life span, risks of death are increased during the first year of life. During vaginal birth, there is an increased chance of internal bleeding of the infant’s head. This is due to an enlarged head, and causes pressure on the brain stem. Women with Achondroplasia must take special precautions while pregnant due to their small pelvises, and will need to give birth via cesarean section.
__________________________________________________________________
Blog Four: Associated Illnesses
A major illness for people with Achondroplasia is apnea, which is shortness of breath or short stoppings. Obesity. Ear infections. Back pains due to kyphosis. Spinal Stenosis is possible, which means that the spine will be pinched. Because of this, it would be difficult for adults with this illness to walk without weak legs. A rare effect would be a build-up of fluid in the brain. When it does occur, it occurs in children and does lead to future brain abnormalities. Because sleep apnea is a common problem, surgery to remove tonsils and adenoids may be in place to assist the individual.
___________________________________________________________________
Blog Five: Physical Features/ Attributes
Long trunk (chest and stomach). Enlarged head, known as frontal bossing. Short thighs and upper arms. The hands will have a trident appearance due to the ring and middle fingers slightly angling away from each other. Adult men on average will be 4 feet 4 inches, while adult females may reach 4 feet 1 inch. Their elbows do not have a range of motion like that of an average sized person. Hip extension may also be limited. However, the knees are known to bend forward more than those of a normal person. Bowed legs are very common. The curve of the spine over time may change, which is knowns as Kyphosis. They usually have short fingers and toes.