Achondroplasia is a genetic disorder in which there is a growth hormone deficiency, or there is a genetic mutation in either the father’s sperm or mother’s egg. (mayo clinic, March 20,2014.) Achondroplasia was the first discovered in ancient Egyptian records. People with achondroplasia were considered people with supernatural powers. Many people call dwarfs midgets but to them, it is very disrespectful because midget literally means little person. Some acceptable names that you can use that will not offend them would be little people, LP, person with short stature, or dwarf. Even though dwarfs feel as if they do not have disabilities, the Americans with Disabilities Act (ADA) will protect the rights of dwarfs. (who discovered it? March 28, 2014.)
Pierre Maroteaux was the first person to mention dwarfism. He is largely credited for the discovery. He discovered the link between the genetic condition and prenatal micromelic in patients. The discovery was known as Lamy-Maroteaux Syndrome which is a very important topic when you are talking about dwarfism. In 1994, Pierre and his team discovered the reasoning behind dwarfism. (who discovered it? March 28, 2014.) The prognosis for achondroplasia has a normal life expectancy. There are just some health issues that come with this genetic disorder like a large head, crowded teeth, bowed legs, shortened trunk, and weak hands. They are still able to do everyday things, they just have to have to be able to conform to the everyday life. Some people think that dwarfs are not as intelligent as a normal sized person but they are. Some dwarfs even go into medical school and become doctors just like an average person would. (right diagnosis March 28, 2014.)
Achondroplasia is the most common i...
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...g with the little couple, when they were younger they both had medical issues. (TLC, Little Couple: TLC, April 10, 2014.)
Dwarfism can be a little issue or can be a big problem. Sometimes people only have a few health issues, such as crowded teeth, that can be fixed. But there are also some cases where it can even be fatal. Many people have the common form of achondroplasia. Even though achondroplasias are short, some companies make special appliances that are small enough for a dwarf to be able to use. Many dwarfs are also able to get pregnant but they should be very careful since they are so short. They can have many health problems so they should go to the doctor frequently just to make sure everything is going okay. Dwarfs have a normal life span expectancy and they are just as able as anyone else that is at normal height. (Webmd, April 8, 2005, March 28, 2014.)
Another man that made discoveries that reinforced those of Pasteur was Robert Koch. Robert Koch isolated the germ that causes tuberculosis, identified the germ responsible for Asiatic cholera, and developed sanitary measures to prevent disease. (1) In the late 1880s, genes, white blood cells, and aspirin were discovered. An Augustinian monk from Austria, Johann Gregor Mendel, experimented in the crossplanting of pea plants.
Throughout this semester, I have gained a abundance of information on genetics that I never knew, but reading the book "Mendel 's Dwarf" did make it a little bit more difficult for me to understand genetics. After looking back at my notes I remembered early in the semester our professor discussing the condition that Dr. Benedict Lambert suffers from which is Achondroplasia(dwarfism). Achondroplasia is condition of short limbs, usually in arms and legs, the torso and head size is majority of the time normal. Simon Mawer describe Dr. Lambert body as "His body is not normal, his is not normal, his limbs are not normal. He possesses a massive forehead and blunt, puglike features. His nose is stove in at the bridge, his mouth and jaw protrude. His
Most serious structure with regards to Osteogenesis Imperfecta , the greater part of these cases are endless in great conditions, which means the vast majority of the cases wind up in premature birth by the guardians or unnatural birth cycle by nature . In any case, a portion of the uncommon cases that do survive present breathing challenges much of the time deadly at or soon after birth, regularly because of respiratory
"Down syndrome." South African Medical Journal 101.1 (2011): 6. Health Reference Center Academic. Web. 16 Apr. 2014.
Meanwhile for other babies having an underdeveloped brain could cause major physical problems for the child. This could include hearing loss and visual problems which would mean that the child would not be able to recognise voices and its surroundings. Another problem this could cause is feeding problems because the child might not be able to swallow this would cause major issues because the child wouldn't be able to get the nutrients it needs to
Girls with this syndrome may have many middle ear infections during childhood; if not treated, these chronic infections could cause hearing loss. Up to the age of about 2 years, growth in height is approximately normal, but then it lags behind that of other girls. Greatly reduced growth in height of a female child should lead to a chromosome test if no diagnosis has already been made. Early diagnosis is very importance in order to be able to give enough correct information to the parents, and gradually to the child herself, so that she has the best possibilities for development. Early diagnosis is also important in case surgical treatment of the congenital heart defect (seen in about 20 per cent of cases) is indicated.
The Autonomic Nervous System is responsible for the functions of the body that are not thought about to control. When this system dysfunctions, it can cause havoc on the human body. One example of this would be Dysautonomia. Dysautonomia is a rare but serious disease that affects the autonomic nervous system, has many symptoms, and offers few treatment options.
Wendy's assessment of the situation is correct-all children must grow up. Or do they? Most of the time, children do grow up. They become adults. They live their lives. There are not many Peter Pans out there who refused to grow up and succeed. However, in some extremely rare cases, stress prevents children from growing. If you are short, you may be thinking that perhaps you suffered from this type of stress and you did not grow to your full potential. Perhaps your parents divorced, or you moved around frequently. This kind of stress, nevertheless, is not severe enough to prevent a child from growing. Rather, those who suffer from this disorder are the children who are extremely neglected (mistreated in orphanages, locked in rooms, completely neglected). The result is an extremely rare disease known as psychogenic or psychosocial dwarfism. What are the causes of this rare disease? How much is biological and how much is social? Why is it that stress can have such a profound effect on the bodies' normal development and maintenance?
Life with dwarfism can be simple. However, it can also be challenging at times. The disease can delay your human instincts like sitting up and crawling. It might have constant ear infections and could become deaf. It could make it hard to breathe while sleeping. It can also cause arthritis in adulthood. In Barbara Walters Dwarfism interview with a dwarf family, [Georgia Family Happy to Be 'The Real Life Seven Dwarfs'. By Lauren Putrino and Jennifer Joseph via 20/20, May 4, 2012.] it was stated that “‘People sometimes calls me midget. I just ...
In 1886, physician John Langdon Down was the first scientist to identify Down syndrome. Down was the administrator of a mental institute for children in Surrey, England. From his observations and work at the institute, he was able to identify a set of children who exhibited characteristics such as short nose, broad flat face, short and broad hands, which are features commonly identified with Down syndrome. He later wrote an essay entitled “Observations of the Ethnic Classification of Idiots” in which he asserts the notion that it was possible to classify different types of health conditions through race. His essay included his now famous classification of what is today known as Down syndrome, which he categorized as the Mongol...
Down syndrome is a genetic disorder, associated with the presence of an extra chromosome. Downs is characterized by mild to severe mental impairment, weak muscle tone, shorter stature, and a flattened face. Down syndrome is not a very common disease, one in every 691 children are born with Down syndrome. The disability is an illness that people are born with and is not contagious. Most people with Downs have a life expectancy of about 40 or 50 years of age. They only live for that short amount of time because they begin to develop a similar disease to Alzheimer’s. “100% of people with Down syndrome will develop some physiologic signs of Alzheimer’s when they are over 35 years old in the U.S” (Statistics about Down Syndrome). They also die earlier because having Down syndrome increases the risk of leukemia 15-20 times in the US. Therefore most people with Downs will die because of leukemia or heart problems before the age of 50.
According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS. Some characteristics of DS include: deep folds at the corners of the eyes, hypotonia, short stature, flexible joints, small oral cavity and heart defects (Taylor, Richards, & Brady, 2005). Most individuals with DS have a moderate intellectual disability, although there is a range of disability, from severe to high functioning (IQ above 70). Since DS is a birth defect and not a disease, there are no treatment options.
gland it is the cause of most dwarfism in Europe, Canada, and the United States.
There comes a time in our life when we know what we want to say, but it does not come out the way we thought it would. Such as being worried about reading out loud in class, going up to an employee in a fast food restaurant to order a simple meal, or making a presentation in class can be terrifying for most individuals with an articulation disorder. An articulation disorder consist of having difficulties producing sounds, substituting sounds, leaving out letters in a word, or adding or changing letters in a word. In most cases when individuals have trouble articulating words he/she might have problems with the main articulators which include: the jaw, lips, teeth, tongue, velum, alveolar ridge, and hard/soft palate. These articulators play
There are many different types of dwarfism that researchers have confirmed today, but there still are many genes for dwarfism that remain unidentified.The most common of these known causes is achondroplasia, a bone growth disorder.The Little People Online website states that most dwarfs who suffer from achondroplasia are born to “average-size” parents, and that their birth rate is somewhere between onein26,000-40,000www.lpaonline.org).The main characteristics of this form of dwarfism are normal trunk size with short appendages, irregularly large heads wi...