Noonan Syndrome Is Agenetic Birth Defect That Results In

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 '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 not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

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.

Trisomy 13 is a very terrible disease to have. The disease causes many deformities. You would have a very deformed body. The disease happens when there is a third thirteenth chromosome. Instead of the normal two, there would be three. The symptoms are heart, brain, spinal cord, and bone abnormalities, also a hole in the iris lip and pallet. Along with those are small head, eyes, and lower jaw, then there is close-set eyes that can fuse into one and low-set ears.

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 lack of protein causes deficiencies in the relaying of nerve impulses which then leads to an individual displaying the physical and developmental symptoms specific to this syndrome. Most males and about half of females with a full gene mutation have characteristics such as a narrow face, large ears, a prominent jaw and forehead and unusually flexible fingers, and even flat feet and low muscle tone due to associated problems with connective tissues (National Library of Medicine, 2014). Males tend to have a mild to moderate intellectual disability, while only one-third of affected females are intellectually disabled (National Library of Medicine). Individuals also suffer from behavioral problems that include things such attention-deficit/hyperactivity disorders, obsessive-compulsive fidgeting or impulsive actions, unstable and disproportionate emotional displays, aggressive and self-injurious behavior related to difficult temperament, and features of autism spectrum disorders like hand-flapping and poor eye contact (Hersh & Saul,

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

It is not a very common disorder, but one factor that can contribute to this condition is when a woman over the age of 35 gives birth. As a woman ages so do her eggs. The genetic information inside the egg has a greater chance of being altered. Mutations and nondisjunction are more likely to occur in older eggs. Doctors have found that this disorder is really caused by random chance of a problem that occurs during meiosis. Parents of a Klinefelter boy are not to blame for their son having this condition.

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.

Marfan syndrome comes with some unfortunate factors such as the signs and symptoms, test screening and diagnosis, and the prognosis also known as the outcome. First, signs and symptoms are crucial to identify as soon as possible. The symptoms of the disorder include, but are not limited to, flat feet, chest that sinks in or sticks out, thin and narrowed face, small lower jaw, nearsightedness, dislocation in the lenses of the eye’s, learning disability, and scoliosis or when the spine curves to one side (Board). However, identifying the symptoms of the disorder can prove difficult (Jay) since age is a crucial factor involved (“Marfan Syndrome”) and that the establishment of a specific, formal test still does not exist (Jay). In other words, doctors become aware of this disorder in people only when the noticeable signs occur caused by the disruption of the connective tissues. Also, the disorder is present at birth even though it may not be diagnosed until at a later time

Trisomy 18 and 13 began to appear in literature in the early 1960's. During this time both of these diseases were considered fatal. A majority of the documented information obtained on these chromosome disorders was gathered from case studies. Even to the current day, these are very deadly syndromes that often kill within the first year of life but due to medical advances can now have life sustained (Nelson 2012). In a study from 1968 some of the clinical features of Edwards syndrome include an elongation of the

In people with Trisomy 13, many deformities occur as a result of their genetic abnormality. One result of this disorder is a distinctive change in the subject’s appearance. Some external deformities include: a cleft lip or palate, clenched hands (with outer fingers on top of inner fingers), close-set eyes (or possibly one fused eye), decreased muscle tone, polydactyly (extra fingers or toes)(see figure 2), single palm crease (see figure 3), coloboma (having a hole, split, or cleft in the iris of the eye)(see figure 4), low-set ears, scalp defects such as missing skin, limb abnormalities, small eyes, a small head, a small lower jaw, and an undescended testicle in males (Haldeman-Englert, C., & A.D.A.M., 2016), or a prominent heel (Clark, Heather

Table 2 summarizes the main encountered clinical findings in their order of incidence. 178/203 (88%) of patients were born to consanguineous parents, consistent with the autosomal recessive inheritance pattern of these disorders. When comparing this rate with