Noonan Syndrome: Article Analysis

Anderson Quillan Syndrome (AMS) is a rare disease with a prevalence rate of 300/100,000 as determined by a recent ecological study. There is speculation that AMS is a consequence of certain exposures, namely increased tea or chocolate consumption and smoking. There is a possible genetic link, but not all AMS patients exhibit this genetic risk. A case-control study (CCS) is proposed in which AMS cases are compared to two control groups. Control group C1 are living genetically related family members of AMS patients and control group C2 is a more diverse cohort of non-AMS subjects without known family history of AMS. The primary goal is to determine whether there is an association between the named exposures and AMS. The secondary goal is to determine whether the presence of a known family history of AMS is a confounder.

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)

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Noonan 's Syndrome is associated with some of the clinical features of Turner Syndrome. Noonan 's Syndrome has some of the same usually features, for example short stature, heart defects,

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”

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,

Noonan Syndrome is a genetic disease caused by a genetic mutation and is developed when a child inherits a copy of an affected gene from a parent with dominant inheritance. Noonan syndrome can also happen with spontaneous mutation. The mutated genes related to Noonan syndrome are PTPN11, SOS1, RAF1, KRAS, NRAS, and

Noonan syndrome, named eponymously for the pediatric cardiologist who first described it, is an autosomal dominant disorder (Gelb and Tartaglia, 2006). It affects 1 in 1,000–2,500 live births with no sex predominance, and is the most common syndromal cause of congenital heart disease, except for Down’s syndrome (Zaras, et al. 2015). This means that in order for the subject to obtain this order, he/she will have to inherit the mutated gene from at least one of their parents. Noonan syndrome causes its host to have abnormal internal and external bodily deformities. These deformities include, but are not limited to, unusual facial defects, heart abnormalities, short stature, delayed puberty among male subjects, sunken or protruding

Noonan Syndrome is the most common syndrome you’ve never heard of. Noonan Syndrome is a genetic disorder that affects normal growth in different parts of the body. It is caused by a genetic mutation that is attained when a child inherits a copy of an affected gene from a parent. It affects a large amount of people all over the world.

Smith-Magenis Syndrome (SMS) is a chromosomal disorder due to the deletion of genetic material on chromosome 17, more specifically 17p11.2 (PEDNEUR). It is estimated that SMS occurs in about 1 in every 25,000 births, affects boys and girls equally, and is underdiagnosed because there’s not as much awareness about it compared to other disorders and syndromes (PRISMS). Therefore, the prevalence may be 1 in every 15,000 births, and most of the people with SMS have been identified in the last 5 to 10 years due to improved cytogenetic testing (PEDNEUR). SMS was first discovered by Ann C.M. Smith a genetic counselor, and Dr. R. Ellen Magenis a physician and chromosome expert in 1986 (PEDNEUR).

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.

One form of Progeria is Werner’s syndrome, which causes rapid appearance in features beginning at puberty. In this disease, there is a mutation in the MRN gene. (“Werner’s syndrome”, 2010) Cockayne syndrome is another disease characterized by premature aging. In this disease newborns are shown to have a mutation in the genes

Turner Syndrome is a genetic disorder that effects a girl’s development. Girls who have it are short, and most are infertile. Girls and women that have turner syndrome are at a risk for many health problems, including high blood pressure, kidney problems and diabetes. There is no cure. But treatment can help reduce symptoms as you read in the text below. This information stated below will explain health issues of turner syndrome. It will also cover symptoms and causes of this disease as well as diagnosis and treatment options.

Syndromes and deformations occur while the child is still in the womb of the mother. Syndromes such as, Edwards Syndrome, Klinefelter's Syndrome, Bloom Syndrome, and Turner Syndrome, research shows that a variety of these deformations occur with complications regarding the chromosomes( shown on karyotype chart). Most of these complications are not hereditary or genetically passed through the parents. All though these syndromes are not hereditary or genetically passed the life expectancy of these unfortunate beings goes no higher than twenty-seven years, some do not even survive childbirth.