Achondroplasia

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    What Is Achondroplasia?

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    Achondroplasia is a genetic pattern inherited in a dominant pattern. It has one mutated gene in each cell that has the ability to cause achondroplasia however in most cases it streams from having a mutation randomly occur in the FGFR3 gene later in life. FGFR3 protein has many versions, which are found in different areas of the body. Many of these proteins are found in the cells that forms bone. FGFR3 is believed to regulate bone growth. Age can effects the mutation, therefore someone who develops achondroplasia later in life could pass a less severe case to their children. “Achondroplasia means without cartilage formation”(3), and is a Greek word. Achondroplasia is actually the most common type of dwarfism effecting almost 80% of all little…

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    Dwarfism- Achondroplasia There are many differences between an average height person and a little person. When looking at a little person, their shorter than normal, heads are bigger, eyebrows may touch, and the hands and feet may look a little strange. Although their body is disproportionate or their features may be deformed, they are still human. People can be viewed in many ways, but it is all about how each person look at one another. It is natural for humans to judge, but do not judge…

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    Most skeletal dysplasias do not show up until later in child hood. For example babies born with pseudoachondroplasia, a form or short-limb dwarfism, have average birth lengths and do not start to show abnormalities until around age three. Some symptoms that can help diagnosis skeletal dysplasia is children is congenital heart malformation, multiple joint dislocations, polydactyl, and susceptibility to infection. Although most dysplasias are not detectable at birth, around 100 dysplasias are…

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    Achondroplasia

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    Achondroplasia Achondroplasia is a form of short-limbed dwarfism. GENE: The FGFR3 gene makes a protein called fibroblast growth factor receptor 3. The function of the protein from the gene is involved in transforming cartilage into bone. FGFR3 is the only gene known to be related with achondroplasia. There is also a receptor called tyrosine kinase. It negatively regulates the growth plate activity and stright bone growth. All people who have only a single copy of the normal FGFR3 gene and a…

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    Essay On Achondroplasia

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    one however; is called Achondroplasia. Achondroplasia actually means “without cartilage formation”. This does not mean that the body cannot make cartilage. It means that the cartilage is not able to convert into bone. This process is called ossification. Achondroplasia is very similar to another type of dwarfism called hypochondroplasia. The biggest difference between the two is that your features are much more severe when you have achondroplasia. When someone has this disorder there leg…

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    Achondroplasia Case Study

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    Introduction The predominant disease that mutant FGFR3 (fibroblast growth factor receptor 3) gene causes is Achondroplasia. Furthermore, Achondroplasia means the absence of chondrocyte formation in bones. Additionally, the transformation of chondrocytes into bone cells is prevalent in the limbs as well as the facial bones of humans (1). Therefore, the predominant symptom of Achondroplasia is bone growth retardation and is found in the limbs as well as facial bones. The majority of people…

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    Achondroplasia Essay

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    No specific treatment is available for achondroplasia. Achondroplasia The height of a human being can usually be linked to genetics. Though it is rare, every newborn has a small chance of developing dwarfism. The most ordinary form of dwarfism is called achondroplasia, literally meaning, “without cartilage formation.” The name comes from the complications in ossification caused by the genetic defect. The gene responsible for the defect was discovered in 1994 by Dr. John Wasmuth, at the…

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    One in every 15,000 to 40,000 children have the disease known as achondroplasia. Achondroplasia is a genetic disease that occurs because of a mutation in the gene FGFR3 and is also the most common form of dwarfism known. The purpose of the gene FGFR3 is to make the proteins that are vital in the formation of bone tissue within the body. Because of this mutation people with achondroplasia have significantly shorter limbs than the normal person making them significantly shorter than most people…

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    because people were in awe of their stature and proportions. Dwarfism is most commonly caused by the genetic condition Achondroplasia, which accounts for 70% of all dwarfism cases and occurs in one out of every 25,000 live births (Pauli, 1998). Achondroplasia (ACH) is one of many genetic anomalies which causes the condition dwarfism it is an autosomal dominant condition but in about 80% of cases results sporadically from a G1138A mutation in the transmembrane receptor of the FGFR3 gene which…

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    proportionally small with short fingers that can diverge into the shape of a trident. Internally, those with ACH can show shortness of the base of the skull with a small foreman magnum and a narrowing spinal canal throughout its length as well as a lower fifth lumbar vertebra which appears between the ilia. These features can often delay motor development milestones like walking as well as lead to several physical conditions (Pauli, 1998). Although people with Achondroplasia can live a full…

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