Noonan Syndrome: Article Analysis

Noonan syndrome is a disorder caused by a genetic mutation that causes various parts of the patient’s body to develop abnormally. The condition occurs when a parent passes on an affected gene to their child that produces constantly active proteins, leading to a disruption in the process of normal cell division and growth. Science currently knows of eight genes in which a mutation can cause the disorder. In some cases, there is no family history and the mutation is spontaneous.

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,

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 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”

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)

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 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.

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

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).

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

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.

This can be passed down from the father but it’s rare when it happens.Doctors do not know what causes it but they do believe it has something to do with DNA that causes cells to be cancerous.

Named after Henry Turner, who in 1938 was one the first doctors to report his discovery in the medical literature on this disorder, Turner Syndrome (TS) also known as monosomy X. Turner Syndrome is caused by the complete or partial loss of one of the X chromosomes resulting in 45X chromosomes. This disease affects only girls and women. It is one of the most common chromosomal disorder and likely the most common genetic disorder of females (National Organization for Rare Disorders 2012). Individuals are usually diagnosed before birth, shortly after birth or during early childhood. It is important to diagnosis Turner Syndrome as early as possible.