Syndromes

Marfan syndrome (MFS) is a genetic disorder which affects the connective tissue of the body. MFS is autosomal dominant, with “approximately seventy five percent of people” diagnosed with MFS having a parent that has the disorder. The other “twenty five percent” of people with MFS have developed this disease through new gene mutation (NIH. National Human Genome Research Institute). This disease is not specific to gender, race or region, and is potentially life threatening. MFS affects multiple…

Rett Syndrome Rett Syndrome is an uncommon neurodevelopmental disorder that is first discovered when a child is still an infant. This disorder is mostly found in girls, rarely is it ever found in boys. Rett Syndrome cannot be inherited from an early on ancestor, and statistically this syndrome affects one in every 10,000 to 20,000 children. Rett Syndrome has many side effects such as, teeth grinding and delayed development. Rett Syndrome is named after a physician and author who first discovered…

Marfan syndrome is an inherited, autosomal dominant disease that affects the Fibrillin-1 gene. The research will investigate the efficiency of the beta-blocker therapy, a common treatment for cardiac complications. The scientists will also explore the cause of Marfan syndrome, and provide evidence on the theory of TGF-ß causing particular Marfan syndrome symptoms. In brief, with funding, an experiment on patients, ages 5-20, will be asked to receive either the beta-blocker therapy or the…

Down’s syndrome is a disease that many feel affect the caretaker and family more than the person who actually suffers from it. 92 percent of mothers who find out they have a child with Down syndrome choose to abort the child. At this time there were no tests to determine whether or not a baby could have certain disease or birth defects, so when this mother bore her child she knew there was something wrong. Her fears were later reassured when she found out her son had Down’s syndrome. It is a…

DOWN SYNDROME: A LIFE-LONG DISORDER Imagine facing two choices: parents having to abort their unborn baby, or they go through the pregnancy knowing their child is going to have Down syndrome, knowing that raising him or her will not be easy. Many parents face this choice everyday. According to Peggy Parks, author of Down Syndrome, 80 to 90 percent of unborn babies diagnosed with Down syndrome are aborted (19). Everyday, all around the world babies are diagnosed with Down syndrome and parents…

Aspergers syndrome is a common type of autism that is characterized by delayed cognitive development, difficulty with social interaction, and repetitive behavior. Aspergers is not a severely inhibiting form of autism and is said to be on the "highly-functioning" side of the autism spectrum. However, people who suffer from this syndrome do experience similar developmental and social challenges that people with autism do. Some of these challenges include: limited/awkward social interaction,…

What Is It? Down syndrome is a mutation caused when cell division is abnormal and results in one extra copy of chromosome 21. Originally forming in egg cells, and not passed on genetically but as a mutation, Down Syndrome is known as the disorder that occurs when an extra copy of the twenty-first chromosome is made during formation of the egg and sperm. Down syndrome is a lifelong condition in which a person is born with distinct physical features and some degree of cognitive disability. Since…

Autism branches off to many other disorders such as Asperger syndrome and Savant syndromes. These disorders have difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors. People who endure such symptoms have a hard time making friends and an even harder time performing daily activities of living. Having this disorder does not mean a normal life can not be possible. Autism, Asperger/Savant syndrome are all disorders that can make one have a hard life but…

XYY Syndrome This syndrome affects males. It usually occurs during birth. Males usually live without knowing they have it. XYY syndrome is a disease that makes you very tall. XYY syndrome is a genetic condition in which a human male has an extra male (Y) chromosome, giving a total of 47 chromosomes instead of the more usual 46. This produces a 47,XYY karyotype, which occurs every 1 in 1,000 male births.en.wikipedia.org/wiki/XYY_syndrome Xyy syndrome was discovered by a man named Sandberg in 1961…

Down syndrome Down syndrome is one of the many disorders that affect hundreds of thousands of people around the world. Down syndrome, also known as Trisomy 21, occurs when an extra copy of the 21 chromosome is made. The disorder usually causes several impairments that can range from mild to severe; impairments include both mental and physical aspects of the individual. Presently, there is no full cure for Down syndrome, but there are numerous of treatments options and way to enhance the…