About Achondroplasia
The Disease Achondroplasia is the most frequent form of a condition called short-limbed dwarfism. Short-limbed dwarfism is when a person is born with significantly smaller arms and legs, making them look similar to a dwarf.
The Disease Achondroplasia onsets at Birth. The advantage of this is that it can be radiologically identified in the uterus. Achondroplasia causes many of the body's structural features to be abnormal compared to that of a normal person. It is quite obvious whether a person has Achondroplasia or not. The tell-tell sign of whether a person has achondroplasia or not is by their height, they either have a normal height or they have a short stature. A short stature most likely means that they have achondroplasia. Other characteristics of Achondroplasia include having a long, narrow trunk and a trident. A trident is where all of a person's fingers on their hand are the same length and they appear stubby. Lumbar Lordosis, another characteristic of achondroplasia, involves a strange inward curving of the abdomen which becomes present when the child starts to move frequently. Many motor milestones that normal people would have like learning to walk or jumping rope are usually delayed, this means that it would take someone with Achondroplasia a longer amount of time to learn how to do these simple skills.
Location: Chromosome 4p16.3
Protein: The FGFR3 gene codes for the Fibroblast Growth receptor 3, there are four different types of fibroblastic growth factors. The Fibroblast Growth Receptor 3 plays an important role in many of the cellular processes. The cellular processes include: regulating cell growth and division, regulating which type of cell a cell will become, forming blood vessels, healing injuries and wounds, and embryo development.
Inheritance: Autosomal Dominance
Conclusion:
The Gene For Achondroplasia exhibits six alleles and all of the six are substitution. All six of these alleles result in a missense of a total of four different amino acids. These Mutations affect the Proteins that Make up the Fibroblast Growth Factor by reshaping it, which makes it harder for it to communicate with other growth factors and therefore shrinking the persons stature, more commonly known as making them a "Dwarf".
The Disease Achondroplasia onsets at Birth. The advantage of this is that it can be radiologically identified in the uterus. Achondroplasia causes many of the body's structural features to be abnormal compared to that of a normal person. It is quite obvious whether a person has Achondroplasia or not. The tell-tell sign of whether a person has achondroplasia or not is by their height, they either have a normal height or they have a short stature. A short stature most likely means that they have achondroplasia. Other characteristics of Achondroplasia include having a long, narrow trunk and a trident. A trident is where all of a person's fingers on their hand are the same length and they appear stubby. Lumbar Lordosis, another characteristic of achondroplasia, involves a strange inward curving of the abdomen which becomes present when the child starts to move frequently. Many motor milestones that normal people would have like learning to walk or jumping rope are usually delayed, this means that it would take someone with Achondroplasia a longer amount of time to learn how to do these simple skills.
Location: Chromosome 4p16.3
Protein: The FGFR3 gene codes for the Fibroblast Growth receptor 3, there are four different types of fibroblastic growth factors. The Fibroblast Growth Receptor 3 plays an important role in many of the cellular processes. The cellular processes include: regulating cell growth and division, regulating which type of cell a cell will become, forming blood vessels, healing injuries and wounds, and embryo development.
Inheritance: Autosomal Dominance
Conclusion:
The Gene For Achondroplasia exhibits six alleles and all of the six are substitution. All six of these alleles result in a missense of a total of four different amino acids. These Mutations affect the Proteins that Make up the Fibroblast Growth Factor by reshaping it, which makes it harder for it to communicate with other growth factors and therefore shrinking the persons stature, more commonly known as making them a "Dwarf".