Syndromes

which house different parts of the body. One of the things that medical professionals do not see that much of however, is compartment syndrome. When one of these compartments become injured, it causes a great amount of increased pressure inside the compartment and it can cause ischemia of the muscle and loss of a limb. This condition is known as Compartment Syndrome (Nielson & Whelan). Case Study During a baseball game at an athletic training clinical site, a baseball player got hit with a…

Turner's syndrome is a rare condition that affects females. It results when a sex chromosome (X chromosome) is either missing or partially missing. Turner’s syndrome can cause a lot of different medical problems such as short height, puberty failure, heart defects, learning disabilities and social adjustment problems. It is sometimes diagnosed before birth, during infancy or during their early childhood. Occasionally the diagnosis is delayed until the teen or young adult years in those who have…

Edwards Syndrome comes from a man named John Hilton Edwards. He first wrote down his findings after a letter he wrote talking about heredity disorders. Pediatrics was his specialty and he was spending time at the Children’s Hospital in Birmingham when he saw a potential chromosomal disorder in a newborn. Edwards called it trisomy which means type unknown. Then he had some of the tissue tested and founded an extra chromosome. He then re-named named it trisomy eighteen, or Edwards syndrome.…

Through the past decade, a lot of syndromes have been discovered by different Scientists and some of them may be deadly such as meckel syndrome. (MGS) is a deadly and genetic disease caused by disorder in the genes and parents have a high potential to transfer it to their children. In fact, a study discovered using data from over one hundred and fifty cases of Meckel-Gruber syndrome, as accessed through the European Surveillance of Congenital Anomalies (EUROCAT) network, found the prevalence of…

Fragile X syndrome or Martin Bell syndrome is a genetic passed disease that affects the early devolvement of the brain that causes mental retardation and has many of the same physical appearances. Fragile X affects males more often than females. This inherited disease is extremely rare and affects 1 out of 5000 kids. This syndrome is caused by a mutation on the X chromosome more specifically the FMR-1 gene that generally affects the early devolvement of the brain. Many symptoms of this disease…

of Rett Syndrome Rett syndrome, named after Dr. Andreas Rett (Briggs,2014) who first identified the condition, is a severe neurodevelopment disorder characterized by compromised brain functions, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements, and developmental regression (Liyanage & Rastegar, 2014). The high prevalence of Rett syndrome in small children and the associated developmental regression have supported the fact that Rett syndrome is…

with a disease such as Down’s Syndrome (DS), a genetic defect of the chromosome 21, valuate and see the life from another point of view. Although they learn how to live with their disease, it is very difficult for them to integrate into the society. According to NDSS there are approximately 400,000 people who live with Down’s Syndrome in United States,…

Down-Syndrome Do you ever see other people and wonder why they act and look so differently? Their is a genetic disorder by the name of Down-Syndrome. Down-Syndrome is a condition in which a person has 47 chromosomes while others have 46 it is also the most common chromosome condition. People with this disorder may have the facial features of flat face, small nose, upward slant eyes, enlarged tongue and may appear shorter than others. Kids with Down-Syndrome tend to grow at a slower rate. You…

thought I had this morning was, ‘Will I have a good day or a bad day?’ Right after thinking that, I thought, ‘How will my Turner Syndrome diagnosis affect today?’ This, however, isn’t the first time thinking these thoughts. In fact, I ask myself these questions every day when I wake up. Every day, I struggle knowing I have a genetic disorder; Turner Syndrome. Turner Syndrome, or TS, is a genetic, chromosomal disorder in which a female is born with only one X chromosome (the 23rd pair). This…

Background: What is Down Syndrome? Down Syndrome is a chromosomal disorder caused by an error in cell division that results in an extra twenty-first chromosome, that causes birth defects of developmental and intellectual delays. The human body is composed of trillions of cells and within the nucleus of each cell are structures called chromosomes (Parks, 2009). About eight million babies are diagnosed with Down Syndrome in the United States with approximately twenty thousand in Western Europe…