Fryns syndrome is a rare congenital disorder that affects the development of the body and is characterized by coarse facial features‚ diaphragmatic hernia‚ pulmonary hypoplasia‚ distal digital hypoplasia‚ and other various associated anomalies.. There is a 25 percent risk of recurrence and the prevalence of Fryns is 0.7: 10‚000 births in France [2]. It affects 1:15‚000 live births [3]. J. P. Fryns first described Fryns syndrome in 1979. It was first described with two still born female siblings
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Affecting about one in every forty-thousand people‚ Waardenburg syndrome (WS) is fairly rare. It is an umbrella which includes four genetic conditions‚ all caused by a mutated or altered gene. Each type affects the individual from birth. All types tend to cause some degree of abnormal pigmentation‚ hearing loss‚ and facial abnormalities (see figure 1)‚ and a few types create more serious concerns involving anomalies in the hands and arms‚ and life-threatening issues of the bowel. We are still learning
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Klinefelter syndrome is an additional X chromosome in the cells affecting males. Meiotic nondisjunction is the major result of this syndrome. There are differences in the degree of severity of physical‚ language‚ and behavioral development symptoms between affected individuals. Klinefelter syndrome is not passed from parent to child; even though‚ women who have pregnancies after the age of 35 may have an increased chance of having a boy with the presence of extra sex chromosome. Tests for chromosome
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normal 44-year-old‚ 6 ft. [183 cm] tall man of average intelligence. [edit] Effects [edit] Physical traits XYY syndrome typically causes no unusual physical features or medical problems. Males with this syndrome may be slightly taller than average and are typically a few centimeters taller than their father and siblings. Skeletal malformations may also accompany XYY syndrome at a higher rate than in the general population. Severe facial acne has occasionally been reported‚ but dermatologists
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Dumping Syndrome My Digestive System Disorder essay is about the Dumping Syndrome. Dumping Syndrome occurs after meals in people who had gastric bypass surgery. The Dumping Syndrome has two type of forms the early dumping syndrome and late dumping syndrome. Dumping Syndrome causes dizziness sweating and weakness. To help decrease the symptoms of the dumping syndrome involves changes in diet and nutrition. Dumping Syndrome is mostly found in African Americans that eat mostly sugar and its moves
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The bottle Syndrome: Learn what to watch! Many children acquire a bad habit to drink their milk in the bottle and immediately after sleep without having washed their teeth. As explains pediatrician Dr. Spyros Mazanis‚ mothers succumb to this "requirement" child of ignorance in order not to lose the habit to drink their evening milk. Of course not excluded that this practice is and during the daily meals accompanied by sleep. This habit can cause serious and irreversible damage to the milk teeth
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Othello syndrome might be the nightmare for a medical student who dreads taking any English class as it is a neurological disorder which combines mental health and a Shakespearian character. In the tragedy written by William Shakespeare‚ the title character Othello murders his wife after falsely believing that she was unfaithful to him. Though it is obvious that a case does not have to turn murderous for Othello syndrome to be present‚ signs of morbid and irrational jealousy are usually the indicator
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Munchausen’s syndrome (MS) is a difficult disorder to diagnose and treat. It is an acute form of the factitious disorder‚ which is when an individual fabricates or induces an illness to oneself for unknown reasons. Another form of this disease is Munchausen’s syndrome by proxy‚ in which a parent fabricates illness onto a child. Physicians have a difficult time to diagnose such a rare kind of disease. That’s why it’s very important that physicians‚ psychologists‚ and also social workers become more
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Project Waardenburg Syndrome Brian Tokay March 4‚ 2011 Waardenburg Syndrome is an inherited disorder characterized by different levels of hearing loss and changes in hair and skin pigmentation. A common trait of Waardenburg Syndrome is different colored eyes or very bright blue eyes‚ a low hairline‚ connected eyebrows‚ some may have a patch of white hair or grey hair by the age of twelve‚ and a wide space between the eyes. There are at least four types of Waardenburg Syndrome-Types 1‚2‚3‚and
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DiGeorge Syndrome: A Study in Chromosomal Errors DiGeorge syndrome is an anomaly that occurs when the 22q11.2 chromosome has been deleted‚ causing many different symptoms in various parts of the body. Those affected by DiGeorge syndrome often display signs of heart disease and defect at birth‚ presence of "cleft" palate (opening in the roof of the mouth)‚ learning disorders‚ autoimmune diseases (such as rheumatoid arthritis)‚ hypocalcaemia (low presence of calcium in blood)‚ speech disabilities
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