Marfans Syndrome

1. What is the likelihood that any of their children (sons and/or daughters) will be born with the disorder?

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 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.

Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being affected with both malformed genes, resulting in them being affected. The chance increases with cousin marriages.

In ARPKD, the chances of passing down the disorder is 25% if both parents are carriers for the disorder. If only one parent has the disorder it is impossible for the child to have it because it is recessive. However the child can be a carrier and pass the mutated gene down to the next generation. If you are both homozygous for the trait then the chances that you will pass on the trait is 100%. If you and your spouse both don’t have the trait at all then the chances of passing down the trait is 0%. (Used a Punnet Square)

Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this

Affecting as many as one in every 10,000 to 20,000 people (“Donohue”), Marfan syndrome is one of the most common genetic abnormalities. Despite the fact that a cure has not been discovered yet, medical researchers as well as doctors are striving their best to prevent or slow the symptoms of Marfan syndrome and to reduce the complications as well.

Marfan syndrome is a hereditary autosomal dominant disorder that affects “about 1 in 5,000 people…” (Marfan Foundation, 2014) Marfan syndrome is not prevalent

Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) within the gene that tells the body how to make fibrillin-1. This mutation causes an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β makes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related

Marfan Syndrome is a disorder that affects the body’s connective tissue. Connective tissue holds all of the body’s cells, organs and tissues together. When the connective tissue is affected it slows down growth and breaks down muscle strength. Connective tissue is also considered the glue of body because its purpose to hold all bones, muscles and joints together. It also plays an important role in overall growth in muscles and bone. A French doctor named Antoine Marfan discovered the disease in 1896. About 1 in every 5,000 children are born with Marfan Syndrome each year and it affects both men and women.

Marfan Syndrome is a genetic disorder that will affect different parts of the body through the connective tissue. The connective tissue is important because it helps you get strength to move, to have muscles, and lets blood run through your vessels, etc. The part of the body in which is most affected would be the eyes, blood vessels, and also the skeletal regions such as the spine. This can also affect what you can do in life because it can cause breathing complications (Deitz et

There is no cure for Marfan syndrome. To develop one, scientists may have to identify and change the specific gene responsible for the disorder before birth. However, a range of treatment options can minimize and sometimes prevent complications. The appropriate specialists will develop an individualized treatment program; the approach the doctor’s use depends on which systems have been affected.

allows doctors to intervene and prevent further complications. Advance are being developed by researchers in order to provide hope for the future. With early diagnosis and appropriate management, life expectancy for an individual with Marfan syndrome is similar to an average

As an adolescent I noticed that I had longer fingers than normal and shortness of breath. After going to the doctors I was diagnosed with Marfan Syndrome. Marfan Syndrome is a genetic disorder that affects the connective tissue due to a defect in the gene that creates fibrillin. Fibrillin is a primary protein in connective tissue. Marfan Syndrome although present at birth is usually not diagnosed until adolescence, and I was unaware of my family history with the disease as I did not know my father. The doctor discovered that my shortness of breath was due to a weak aorta and leaking heart valve. As there is no cure for Marfan Syndrome my body is unable to naturally maintain homeostasis. I was put on beta blockers