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... ... middle of paper ... ...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.)
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
Symptoms of elephantiasis are enlargement and swelling of a part of the body due to the blockage of the lymphatic nodes. The lymphatic system is not able to take out the extra fluid of the body which causes an accumulation of body fluid. The arms and legs are the most affected areas in the body. It can swell to more than three times of its normal shape. Affected areas will have malformed shapes; skin and tissue will become thick and appear to look like an elephant’s leg. The skin of the affected areas becomes extremely dry, thickened (hyperkeratosis), and discolored. Other symptoms may include Fever, chills, and a feeling of sickness. Elephantiasis may affect the male and female external genital area. Some male suffer from enlargement of the scrotum, in some cases scrotum can become abnormally enlarged and can weigh over 100 lb. The penis may be hidden under the skin. In some women the external area of the genitalia will appear thickened and ulcerated rough skin may develop. The breasts may become enlarged. Infected individuals are susceptible to bacterial and fungal due to the damage of the lymphatic system. Infections may become worsen due to the lack of immunity caused by a damaged lymphatic system. People affected by this disease may experience severe pain and a burning
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.
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.
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
Dwarfism is not classified as a disease, rather, it is a genetic condition that has an affect on the growth and development of the skeletal system. An adult under the height of 4 feet and 10 inches is typically considered to have dwarfism. The two main types of dwarfism are disproportionate or proportionate. Proportionate dwarfism is when a person experiences an effect on their growth resulting in a short stature and disproportionate dwarfism is when the limbs do not develop properly, but the rest of the body is proportionate.
Arthrogryposis is a disorder in which a child is born with joint contractures; this means some of their joints may be stuck in one position (curved or crooked). Children born with this disorder may have thin, weak, stiff, or missing muscles around these joints. The most common cause of arthrogryposis is fetal akinesia which is where the baby doesn’t move around a lot in the womb during development. Extra tissue can form in the joints making movement more difficult for the child to move. The reasons that fetal akinesia can take place may be because the womb was abnormally shaped so there wasn’t enough room for the baby to move around, amniotic fluid may have leaked out of the womb, or the baby’s parts did not form normally such as joints, bones, and muscles. They have also found that in approximately one third of the children who have this disorder have been determined to be a genetic cause.
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
“Dwarfism” is a term used to describe the condition of those whose bodies are significantly smaller than the average person’s.A dwarf may suffer from medical problems, which can lead to many deformities and complications throughout life.The deformities of some dwarfs, according to the Little People’s Research Fund website, can lead to extensive disabilities, paralysis, and even death.Over one and a half million people in the United States suffer from some condition of dwarfism (Billy Barty).What many do not know, however, is that most dwarfs are born to families that have no history of dwarfism in their families.