Examples Of Marfan Syndrome

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.

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.

discoveries is information regarding chromosomal and genetic disorders. Both chromosomal and genetic ailments can have harmful effects on the body. Genetic diseases such as Bloom's Syndrome occur as a result of gene alterations. These gene mutations cause the chromosomes to become unstable, leading to chromosomal breaks, separations and structural repositioning (Freivogel 170). Chromosomal diseases like Charcot-Marie Tooth Disease are also caused by mutations, which are nearly irreversible (Krajewski 232).

Developments in medicine have negatively impacted natural selection by causing an increase in genetic disorders. A genetic disorder can occur for many reasons. Sometimes chromosomes are missing or doubled. In other situations, the genetic code on chromosomes can get altered due to an anomaly when the RNA processes the information. Important information can be deleted, swapped, or completely altered. It is because of these changes in chromosomal DNA that changes in species come about. Genetic disorders are the negative effects of mutations in genes. For example, Sickle-cell anemia is a blood disorder which

Marfan syndrome is a genetic disorder that affects the body’s connective tissue that holds all of the body’s cells, organs and tissue together. Connective tissue plays an important role in helping the body grow and develop properly throughout a lifetime. Marfan syndrome primarily affects the proteins in the connective tissue all over the body. The primary protein that plays a role in Marfan syndrome is called fibrillin-1. A defect in the gene causes poor binding of fibrillin-1 to other proteins in the body, most commonly the protein named Transforming Growth Factor Beta, or TGF-β. The excess TGF-β protein accumulates in the lungs, heart, heart valves, and aorta. Once the structure of these organs are affected, their functioning

Marfan syndrome is a genetic illness with significant morbidity and death (1). Prevalence appears to be similar across the world, regardless of gender, and the estimate in the European countries is 1 in 10,000 (2). The average expectancy used to be 32 years, but improved surgery increase life expectancy to approach that of the entire population (3). The level to which individuals are affected differs and those with the syndrome tend to be tall, thin and with long legs, arms, fingers as well as toes (4). It is important to discuss the symptoms, pathogenesis, diagnosis, and management of the syndrome.

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%.

Every individual experience Marfan syndrome differently. Everyone has different combinations of features. Some features of Marfan syndrome are easier to detect than others. These include:

Marfan Syndrome is one of the most common inherited disorders of connective tissue. Marfan Syndrome is a disorder that happens with your connective tissue. This disease is inherited or caused by a mutation in the FBN1 gene. The most common symptom of Marfan Syndrome is Myopia.

The insured is a 37-year old female Senior Banker who had been on maternity leave from her job at Union Bank. On April 7, 2015, she started experiencing and having symptoms of having chest and back pains which exacerbated significantly while she with her husband, while she sat as a passenger one week after she gave birth. The feeling she felt was a sudden, constant chest pain that seemed to be “ripping” or “tearing” as she estimated the pain level to be at a ten. Her symptoms gradually got worse where upon her husband, Mr. Carlos Salazar drove her to the Kaiser Permanente Los Angeles Medical Center, located in Los Angeles, CA, where she was admitted to the Cardiac ICU where she received blood tests and CT scans. She said Kaiser's Cardiac Team diagnosed her with Type an Aortic Dissection in Marfan Syndrome after her doctors based her diagnosis on it being genetically detected. Afterward, she was medically discharged from the hospital on April 15, 2015.

In this world many things can happen. One of the most interesting things is that we can get disorders in the womb. These disorders can be good, bad, or it doesn’t change a thing. Most of these disorders all start from a small cell that creates us all. The only thing that’s different is that there was some kind of change in genetics.

Marfan syndrome is a histological disorder that specifically deals with one of the four primary types of tissue known as connective tissue. Marfan syndrome is also considered an autosomal dominant disease, meaning this disorder requires only one parent or donor to carry the abnormal gene for it to be inherited in the offspring. The inheritance of the abnormal gene is the biological basis or genetic trigger that results in a mutation that occurs in the gene named fibrillin-1, or short FBN1. The respective location of gene FBN1 is on chromosome 15. Function of the FBN1 gene includes storing the blueprints for making the glycoprotein fibrillin-1, which is a component of many tissues. When produced, the fibrillin-1 protein exits the cell via transport

Just think if you could remember everything you read or remember every detail in a painting. People with Savant Sydrome are autistic, but some can do something extraordinary whether it has to do with art or just remember everything. There are a lot of intriguing diseases in the world; these include Marfan syndrome, Savant Syndrome, and Jumping Frenchmen of Maine.

Prognosis of Marfan syndrome: is often based on normal lifespan, it’s lifelong condition require adequate medical attention. This syndrome is a lifelong disorder that has been improved throughout the years.

Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue, affecting mostly the skeletal, ocular and cardiovascular systems, caused by mutations in the FBN1 gene. (Fernandes et al 2016) It was first described just about 100 years ago and was one of the first conditions classified as a heritable disorder of the connective tissue. MFS lies at one end of a phenotypic spectrum, with people in the general population who have one or another of the features of MFS at the other end, and those with a variety of other conditions in between. (Pyeritz 2000) One in four cases of MFS occur through due to a random mutation the rest are inherited. (Lima et al 2010) Marfan syndrome affects anywhere from 1–2/10,000 individuals and has a large amount of variation in its symptoms and severity. The incredible variability of Marfan syndrome and the lack of identifiable phenotype-genotype correlations point to the occurrence of modifier genes. (Fernandes et al 2016) According to Groth et al. the prevalence of MFS could increase because during their 38 year study they saw a clear rise in prevalence. The age of diagnosis for MFS can range throughout an entire lifetime however the median age of diagnosis is 19 years old. It has the potential to be a life threatening