Noonan Syndrome Research Paper

Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.

The chromosomal abnormalities include turner's disease, laron dwarfism, noonan syndrome, sinotina wiley syndrome, russell xifushi, mutation / deletion of the short stature homeobox-containing gene, and skeletal dysplasia.

Noonan Syndrome is the result of a chromosomal abnormality. This specific type of abnormality can only be detected by deep molecular testing of the parents and the offspring who has been affected by Noonan syndrome. Detection then becomes a tricky process as the signs and symptoms of the defect can be misdiagnosed as their individual appearances. A short stature can be seen as just a physical abnormality, the same for eye spacing and other physically noticeable attributes. The heart diseases can be seen as completely separate problems as well. For this reason cases of Noonan syndrome can persist into a person 's adult life completely undiagnosed. Detection therefore relies on the parents being genetically tested before ever conceiving.

Noonan Syndrome is an autosomal dominant disorder, which is inherited by the mutation from one affected parent. So it is not like someone choses to have this disorder, it just gets passed down to them. Since this disorder is caused by a mutation in the genes, there are some other cases that result from

One of my cousins suffers from Noonan syndrome, a disorder that affects many areas of his body. There are many manifestations of this genetic disorder. My cousin suffers from unusual facial characteristics, short stature, and skeletal malformations, to list just a few. He has gone through multiple surgeries and faces a lot of daily challenges, including learning difficulties at school. He is never going to be cured of this disorder. He will live to a normal life expectancy barring any extraordinary medical occurrence. Although many of his problems can be medically dealt with so that the disruption to his daily life is minimal, he can never be as tall as the other kids, or look normal, or learn as they do. He is always going to be just “a lot”

This syndrome is inherited in families in an autosomal dominant manner. Since Marfan syndrome is autosomal dominant, people with this disorder can be either homozygous dominant or heterozygous. This means that people carrying even one copy of the altered gene will have the disorder. Mutations of the FBN1 gene has been linked to the Marfan syndrome, although not everyone who has this mutation develops the disorder.

The number of seniors in the United States is growing rapidly. The costs to cover medical expenses is increasing as well, causing many family members to become caregivers. Unfortunately, without receiving specialized training, some seniors may be at a disadvantage when they receive care from their family members. Caregivers must recognize the signs many seniors exhibit when it is time for a community that focuses on senior living in Virginia Beach.

Johnson-Munson syndrome is a rare syndrome identified by missing abnormal vertebrae, fingers and toes and various deformities of the heart, lungs, intestines, pancreas and intestines. Ophanet a consortium of European partners defines a condition as rare. In the US population, less than 200,000 people can possibly be affected by Johnson Munson Syndrome or second type of Johnson Munson syndrome. (Orphanet 2015)

Kim Jong Un’s son, K.J. Jr. shocked the world by being born with the Noonan Syndrome! The Noonan syndrome is a condition that normally involves disabilities such as a heart problem found from the start of birth, short stature, a webbed neck, or chest deformities may be seen as well (. This is extremely depressing because K.J. Jr. amazingly beat the odds of one in 1000-2500 births that will have this type of genetic syndrome (Noonan Syndrome Support Group)! The Noonan syndrome is inherited along with birth and anyone may be born with the syndrome regardless of gender. This disease is often found in Canada, Holland, and the United States (Noonan Syndrome Support Group).

A genetic disorder is an a disease or condition caused by one or more abnormalities in the genome. Genetic disorders are an inherited medical condition, which are caused by a DNA abnormality. “Noonan Syndrome is a genetic disorder, it prevents normal development in different parts of the body (Mayo, 2016).” There are several different abnormalities caused by Noonan Syndrome that can affect people. Noonan Syndrome is a genetic disorder which a means it can be passed through parents to their children.

This abnormality is caused by a gene translocation

The National Human Genome Research Institute (NHGRI) and the National Coalition for Health Professional Education in Genetics (NCHPEG) have expressed the need for the education of physicians about the ethical, legal and social implications (ELSI) related to Lynch Syndrome assessment, genetic testing and counseling (Metcalf, Tanner, Buchanan, 2010). To address this need, a local medical organization has called upon a health consultant and educator to conduct an educational assessment and training on Lynch Syndrome for primary care physicians and other healthcare professionals in their organization.

In the Article Common Genetic Disease Linked to Father’s Age scientist from the University of Southern California observed new cases involving the Noonan Syndrome. In their study, they noticed that more cases of this disease are becoming more common in older men. Noonan Syndrome, formally heard of as the Turner-like Syndrome is a genetic mutation that affects many areas of the body. According to the article, “The disease can cause facial abnormalities, short stature, heart defects, intellectual disability and sometimes blood cancers.” More importantly, What is the cause of this disease? And, Why is it becoming more common? In some cases, an affected person inherits the mutation from its parent. However, scientist have found that in other

Genetic disorders come in various forms. Some can be caused by mutations of the genes or chromosomes while others can be caused by a process called nondisjunction. Nondisjunction occurs when chromosomes during meiosis do not separate correctly and the daughter cells receive too much or too little genetic information. Klinefelter's is caused by nondisjunction which results in an extra X chromosome being present in a male.

Noonan syndrome is an autosomal dominant genetic disease that affects facial characteristics, heart, skeletal formation, stature, and may other areas of the body. Approximately 1 in 1,000 to 2,500 people are affected by Noonan syndrome. Those affected by this disease have deep grooves around their mouth and nose area, low ears, and wide eyes. Other distinct features of Noonan Syndrome include shorter necks, excess skin around the neck, and low hairlines. A common heart defect associated with this disease is the narrowing of the value that controls blood flow from the heart to the lungs. Although an individual may be affected by this syndrome, most still have a normal intelligence. A mutation occurs on the PTPN11, SOS1, RAF1, KRAS, NRAS,