Marfan Syndrome Research Paper

One in every 5,000 new borns can inherit this disease that is characterized by harelip, cleft palate, severe defects to of the eyes, brain and circulatory system. Some affected newborns will die within a year.

Marfan syndrome is a connective tissue disorder that is caused by an increase in the production of

Marfan Syndrome, which is named after Antoine Marfan who first described the disorder in 1896, is a genetic disorder that affects the connective tissues found throughout the body. This syndrome can affect many different parts of the body, but the most commonly affected are the heart, blood vessels, bones, joints, respiratory system, nervous system, and eyes. Thankfully, a person’s intelligence is never affected. Marfan syndrome affects people from all races and ethnic backgrounds, and this often makes it hard to detect. It is a pretty rare genetic disorder affecting only about 1 in every 5,000 people.

Marfan syndrome is a genetic mutation of the FBN1 gene which codes for a protein that contributes to the connective tissue in the body and releases certain growth hormones (Callewaert et al., 2007). A mutation in this gene contributes to a variety of signs and symptoms usually involving skeletal deformations like long bone overgrowth, causing elongated limbs and spinal conditions like scoliosis and kyphosis (Callewaert et al., 2007). Retina detachment is common in those with Marfan syndrome and cardiovascular complications may include aortic dilation, dissection and rupture and up two thirds of patients develop mitral valve dysfunction (Callewaert et al., 2007). R.C. has experienced detached retinas,

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.

Johnson Munson syndrome will start within the DNA from the formation of the fetus at birth. There are birth defects that cause the variety of disfiguring parts of the body. There for the limbs may not be of proper size and these could consist of a toe or finger missing. The toes and fingers can also be grown together, arms, and legs may not be fully developed. As of today, there is one known risk factor that has been found within the first year of the child’s

Metabolic syndrome is becoming exceedingly popular; though it is debatable among experts as to whether or not it should in fact be considered a disease at all. Metabolic syndrome is better described as a group of risk factors for high blood pressure, high blood sugar, abdominal fat, and unhealthy cholesterol levels. To be diagnosed with Metabolic syndrome, you must have at least three of these risk factors, according to, WebMD, simply having one of these risk factors on your health is dangerous, but when you are at risk for all of them you may be in store for some serious health problems. Being diagnosed with Metabolic syndrome puts you at a high likelihood for blood vessel and heart disease. These factors in turn

In regular, healthy people the filament discharge growth factors at the right time, but individuals who have Marfan syndrome are ending up having the discharge happen too soon. This early release of growth factors gives the person's abnormal lengthy limbs. This gene does not discriminate on age, ethnic group, or gender; anyone can be affected. 1 in every 5,000 people in the United States are diagnosed with Marfan syndrome (NIH, 2010). Strangely, it is uncommon in other countries. One parent with the genetic disorder has a 50 percent probability of passing it to his or her offspring (Frey R, Sims J, 2010). Marfan syndrome is largely inherited, although about 30 percent of diagnosed reports have described various mutations of the FBN1 gene in people with no family history of the disorder (Frey R, Lutwick L, 2009). Individuals with this disease can live an average life span if they receive the proper diagnosis and treatment. Early detection and treatment is essential for people with Marfan syndrome because it can cause heart problems which can produce other horrible symptoms. Some patients who even do treatment may die at a young age due to heart problems. The life expectancy of people with Marfan syndrome has increased due to new medications and surgical procedures for the heart (Frey R, Lutwick L,

Morquio syndrome belongs to a group of syndromes named mucopolysaccharidosis (MPS). Morquio is also identified as MPS IV.In kids with Morquio syndrome, the body cannot breakdown sugar particles called glycosaminoglycans that assistance in building cartilage, bone, eye corneas, skin and connective tissue.

In the majority of Rett Syndrome cases, it is caused by a mutation in a single gene. In 1999, it was discovered that mutation within the Methylcytosine-binding protein 2 is what eventually lead to Rett Syndrome. This gene makes a protein that is extremely necessary for the brain to function. However, the mutation is insufficient on developing this gene, or it damages the protein to the point where it may not be used. Either way, there is not enough working protein for the child to cooperate.

In light of Marvie’s diagnosis of cerebral palsy the client encounters various opportunity barriers. Beukelman and Mirenda discuss that a lack of experience or world knowledge with active participation in literacy can restrict an understanding of written texts as well as deter motivation when little success is made (Beukelman & Mirenda, 2013, p. 312). Marvie expressed her disappointment in her literacy skills, which possibly may be credited to her lack of exposure. Retention of literacy can not happen in isolation and must be integrated in her environment by way of a physical, social, language, and cultural context (Beukelman & Mirenda, 2013, p. 312). It is stated that children with complex communication needs have notably less physical and

The likely inheritance of Marfans syndrome is autosomal dominant and vertically inherited trait. In an autosomal dominant inheritance pattern, a person only needs one copy of the dominant allele from one parent to display the disorder. If they do not have Marfans syndrome, they are not a carrier for the disease. A person who has Marfans has a 50% chance of passing that disease to its offspring, as long as their partner does not have Marfans. If a person with Marfans were to mate with another person with Marfans, the chance of transmission is much higher, at least 75%.

In The Status Syndrome, Marmot argues that socioeconomic conditions lead to a hierarchical health gradient, where mortality progressively decreases as one’s socioeconomic status improves. He illustrates this using mortality rate data about workers in the British civil service from the Whitehall studies. The studies show that mortality in all age groups is higher for clerical workers, who earn less and have a lower social standing, as compared to other professionals. Moreover, administrators, who earn more than both these groups, have the lowest mortality rates, which shows a gradient in health. Additionally, none of these workers are in poverty, and have access to medical care, which further highlights that the health gradient is a phenomenon

MLD is commonly associated with infants as most cases occur while the patient is young, typically from 12-20 months post birth. However, Juvenile and late onset MLD also exists in which symptoms arise later on in life. The time of onset depends on the type of mutation the individual has. Individuals with MLD suffer from demyelination in the central as well as peripheral nervous system, the degradation of myelin cause nerve

There can also be spread in families which is also called hereditary like if my father has an extra thumb there could be chance that i will born with same deformities .