Lysosomal storage diseases are rare‚ inherited disorders caused by the deficiency of one or more enzymes within the lysosomes of cells. Hunter Syndrome also known as mucopolysaccharidosis disorder II (MPS II)‚ is a genetic abnormality occurring in canines and humans. It is a rare X-linked recessive metabolic storage disorder caused by the deficiency of the lysosomal enzyme iduronate-2-sulphatase‚ which is needed to breakdown complex sugars produced in the body‚ leading to progressive accumulation
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Aspergers Syndrome is a lifelong neurobiological disorder of social interaction and behavior (Frith 2004; Wing 1981; Gillberg and Gillberg 1989; Klin et al. 2000). The purpose of this study was to study the language performance in school-aged children with Aspergers Syndrome along with their age‚ sex‚ and IQ matched controls. Prior to the study‚ they expected children with Aspergers Syndrome to perform below average in the selected measures of language due to their difficulties in language development
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Down Syndrome Although many theories have been developed‚ it is not known what actually causes Down syndrome. Some professionals believe that hormonal abnormalities‚ X-rays‚ viral infections‚ immunologic problems‚ or genetic predisposition may be the cause of the improper cell division resulting in Down syndrome. It has been known for some time that the risk of having a child with Down syndrome increases with advancing age of the mother; i.e.‚ the older the mother‚ the greater the possibility
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KLINEFELTER SYNDROME RESEARCH 1 Klinefelter Syndrome Research Duyen Le Ap Biology KLINEFELTER SYNDROME RESEARCH 2 Abstract Klinefelter syndrome is the most common genetic disorder that affects males. The affected male has an extra copy of X chromosome‚ which means he has 47 chromosomes (XXY). The effects of Klinefelter syndrome vary by age; the patients with Klinefelter syndrome usually have weak muscles‚ slow
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What a Diagnosis of Down Syndrome Means Today Down syndrome is a condition affecting many Americans and individuals across the world. It presents challenges socially‚ academically‚ and behaviorally. However‚ a diagnosis today is not nearly as detrimental to the person’s quality of life as it was decades ago. Strides have been made in Down syndrome awareness‚ education and overall acceptance. Screening is now available so that parents know in advance if they are going to have a child born with
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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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