Down Syndrome Down Syndrome is a chromosomal disorder. It occurs in about 1 of every 800 births. People with Down syndrome may have mild to severe learning disabilities. Physical symptoms include a small skull‚ extra folds of skin under the eyes‚ and a protruding tongue. People with Down syndrome are subject to a variety of medical problems including heart abnormalities and thyroid gland dysfunction. Survival rates have been increased dramatically in recent years as problems specific to Down syndrome
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Chromosomal Disorder: (Turner Syndrome) Introduction Turner Syndrome is a condition that only alters the development of girls and women. Most girls and women have two full and complete X chromosomes while girls with turner syndrome have only part of the second X chromosome. Women and girls are diagnosed with turner syndrome have features such as slow growth rates‚ a webbed neck‚ broad shoulders‚ and widely spaced nipples. They also have swelling hands and feet‚ heart defects‚ kidney problems‚ and
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Cushing’s Syndrome and Hyperpigmentation Cushing’s syndrome is caused by abnormally high levels of cortisol. Cortisol is a steroid hormone that helps the body react to stress‚ regulate blood pressure‚ and metabolize food. Cortisol is produced by the adrenal glands. The adrenal glands are part of our endocrine system and produce hormones that regulate our organs‚ tissues‚ and glands throughout the body. When cortisol levels are low the hypothalamus‚ a gland located in the lower portion
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Angelman Syndrome What is Angelman Syndrome? Angelman syndrome is a neuro-genetic disorder first described in 1965 by Dr. Harry Angelman. This is where the name of the disorder derived. Dr. Angelman referred to the disorder as ‘Happy Puppet Syndrome’‚ because the people affected with it generally had a happy‚ puppet like demeanor‚ and walked in a stiff‚ jerky‚ marionette-like gait. Angelman Syndrome affects about 1 in every 20‚000 people. The life span of an individual affected
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What is Marfan Syndrome Marfan syndrome is a genetic disorder that affects the connective tissue in the body. Connective tissues are one of the most important parts of the body. Connective tissues holds together all of the body’s cells‚ organs and other tissues. The connective tissues play a major part in ensuring the proper growth and development throughout the body. Marfan syndrome affects a protein called fibrillin-1. Marfan syndrome is caused by a defect in the gene that tells the body how to
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Down Syndrome is a chromosomal condition related to chromosome 21. It affects 1 in 800 to 1 in 1000 born infants. People who have Down Syndrome have learning difficulties‚ mental retardation‚ a different facial appearance‚ and poor muscle tone (hypotonia) in infancy. Individuals with Down Syndrome also have an increased risk for having heart defects‚ digestive problems such as “gastroesophageal reflux or celiac disease”‚ and hearing loss. Some people who have Down Syndrome have “low activity of
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What is Klinefelter syndrome? Klinefelter syndrome is a chromosomal condition that affects male sexual development. Males with this condition typically have small testes that do not produce enough testosterone‚ which is the hormone that directs male sexual development before birth and during puberty. A shortage of testosterone during puberty can lead to breast enlargement (gynecomastia)‚ reduced facial and body hair‚ and an inability to father children (infertility). Older children and adults with
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Munchausen Syndrome by Proxy Munchausen Syndrome by Proxy is a serious disorder that is often looked over by many. It is a very serious disease and must not be taken lightly. Munchausen syndrome by proxy‚ also known as factitious disorder by proxy‚ is a form of child abuse where the mother or parent makes up or produces illnesses in their own child. Many cases of this disease have lead to the death of the child and imprisonment of the parent. This is a disease that needs to be made aware of and
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Final Paper Down Syndrome Introduction As women grow older‚ their chances of becoming pregnant become slim. However if a woman over the age of forty happens to finally get pregnant‚ the chances of the baby having birth imperfections tend to increase. Although some disorders occur through unhealthy lifestyles that the mother involves herself in‚ Down Syndrome is usually not identified as such. The age of the mother is not the only thing that may cause Down Syndrome to occur. The reasoning for
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Super Duper® Handy Handouts!™ Number 116 What is Down Syndrome? by Becky L. Spivey‚ M.Ed. What is Down syndrome? Down syndrome is a congenital disorder stemming from a chromosomal abnormality appearing in one of every 800 births. It is the most common genetic disorder affecting more than 5‚000 babies born in the United States each year. This syndrome occurs when one chromosome has an extra “part‚” an error occurs in cell division‚ or an extra chromosome exists resulting in 47 chromosomes. Most
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