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
disorder that affects a particular gene is Marfan syndrome. Marfan syndrome is an inherited disorder which alters the connective tissue in the body (Frey R, Sims J, 2010). Individuals with this disorder are affected in multiple areas because connective tissue is present all through the body. It is common for affected individuals to show irregularities in their eyes, circulatory system, skin, lungs, and musculoskeletal system (Frey R, Lutwick L, 2009). Marfan syndrome is an autosomal dominant disorder resulting
Marfan syndrome (MFS) is known as an autosomal dominant hereditary disorder of connective tissue. Connective tissue helps support all parts of the body. It also helps control how the body grows and develops. Principal manifestations involve the ocular, skeletal, and cardiovascular systems. MFS is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1) which is located on chromosome 15(Marcheix, 2008). There are many mutations that can cause Marfan Syndrome, but most common are missense
Nothing good comes from the disease Marfan syndrome. It is awful in many ways but can be dealt with. Here is an introduction to Marfan syndrome. Marfan syndrome is a Single Gene Mutation and the gene that is mutated is FBN 1 (Fibrillin 1).The gene is located on chromosome 15 and the disorder’s mode of inheritance is autosomal dominant. This means
was Marfan Syndrome. A Brief Overview: Marfan Syndrome is name after Antoine Marfan. He was a French pediatrician who first describe the condition in 1896. Marfan Syndrome other known as the connective tissue disorder, is an inherited tissue disorder. It is the missfloding of protein fibrillin. (code fibrillin-1) Marfan affects the connective tissue of heart, blood vessels, eyes, bones, lungs and covering of spinal cord. There are so many affected parts in the body because of Marfan Syndrome, because
Marfan syndrome is a genetic disorder that affects the connective tissue. It is the most common inherited disorder of connective tissue that affects multiple organ systems. It is also called arachnodactyly. This autosomal-dominant condition has an incidence of 2-3 per 10,000 individuals. It is caused by a defect in the gene that tells the body how to make firillin-1. This a protein that helps make up connective tissue. The mutation causes more of the protein called transforming growth factor
What is Marfan Syndrome? For this genetic disorder assignment, I chose Marfan Syndrome, which is a mutation in your connective tissue. Connective tissue holds our body together by holding the blood where it is suppose to be, the organs in place and keep our tissue in place. This connective tissue also helps you grow in height and go through the stages you need to. The disorder results in abnormally long and thin digits in your genes and also frequently in optical and cardiovascular defects. Our
Marfan syndrome is an inherited disorder that affects the connective tissue of the body (“What is Marfan Syndrome?” n.d.). The connective tissue plays a vital role in supported the tendons, heart valves, cartilage, blood vessels, and more parts of the body (“Connective Tissue,” n.d.). “What is Marfan Syndrome?” (n.d.) explains that the condition has no cure, and those who have it lack strength in their connective tissue, affecting their bone, eyes, skin, nervous system, and lungs. Furthermore, Marfan
The syndrome was named after Georges Guillain and Jean Alexandre Barre in 1916, Guillain-Barre Syndrome is an autoimmune disease, activated by an infection, or surgery that causes the immune system to attack the lower motor neurons in the peripheral nervous system, but will gradually work its way distally to more proximal. “This syndrome can affect people in any age group and occurs in 1 in 100,000 of the population.” (Lescher, 2011). Guillain Barre Syndrome typically occurs following an infection
EhlersDanlos Syndrome Ehlers-Danlos sydrome (EDS) is a rare inherited group of connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen is a tough fibrous protein that plays an essential role in binding, holding together, strengthening, and providing elasticity to bodily cells and tissues. There are six major types of EDS that I will discuss, however I will only go into detailed discussion on two of the six types of EDS. The two major
Shaken Baby Syndrome Imagine yourself as a sweet, innocent, precious little baby. You are totally dependant upon adults to give you what you need and most importantly love. Your only means of communication is crying so you cry when you need to be fed, when you need your diaper changed, when you aren’t feeling so well, or when you just want some attention. You are crying and someone comes over to you. They pick you up, but instead of holding you and comforting you, talking affectionately to you,
Treatment for Raynaud’s - 2 - Introduction Raynaud syndrome is an auto-immune disorder in which blood vessels in the digits constrict. It usually strikes females between the ages of eighteen and thirty. “Between three to five percent of people are affected.” (Harvard, 2003) There is no known cause or cure. (Segala et al, 2003) Clinical features primarily deal with (but are not limited to) the digits of the fingers. Other digits that may be affected include toes, nose, and ear lobes. Exposure to cold
to be a large factor. Non genetic factors (i.e. maternal infection, prematurity or postnatal infection) may cause 40-50% of the remaining hearing loss. About one-third of children with hereditary deafness have features that are part of a genetic syndrome and there are between 300-400 different forms of genetic deafness that are known. Most children benefit from a genetic evaluation as a dominant diagnostic tool in determining the exact cause of the deafness, and the role of the audiologist is pivitol
Progeria, otherwise known as Hutchinson-Gilford syndrome is an extremely rare, genetic childhood disorder with a reported incidence of about one in a million. Hutchinson reported the syndrome in 1886 when he found the first patient with Progeria. In 1904 Gilford described a second case of Progeria, thus creating the term to reflect the syndrome’s senile features. There are only about a hundred reported cases since the disorder has been discovered over a century ago. Currently, there are about thirty
Locked-In Syndrome and PVS: Implications for Brain = Behavior During our first few class sessions, I became very intrigued by the brain = behavior idea and the I-function. I kept searching for what I thought to be an easy way to approach these complicated issues. We discussed extensively the example of Christopher Reeve, as someone with an intact I-function, but who has lost a certain element of connectedness between total I-function control and his actual body. I became very interested in how
Battered Women's Syndrome: A Survey of Contemporary Theories Domestic Violence In 1991, Governor William Weld modified parole regulations and permitted women to seek commutation if they could present evidence indicating they suffered from battered women's syndrome. A short while later, the Governor, citing spousal abuse as his impetus, released seven women convicted of killing their husbands, and the Great and General Court of Massachusetts enacted Mass. Gen. L. ch. 233, 23E (1993), which
The disorder that is called Cri du Chat Syndrome has known many names. These include, but are not limited to, CdCS, Crying Cat Syndrome, 5p-, 5p minus, amd 5p Deletion Syndrome. It can also be called Monosomy 5p and Lejeune Syndrome. The people that have this disorder show many symptoms, the most recognizable being an underdeveloped larynx, which results in infants producing a high-pitched cry which often sounds like, of all things, a cat. The French name is taken from this symptom; the term Cri
ETHNOGRAPHY ASSIGNMENT Prader-Willi syndrome (PWS) is a distinct condition characterized by neurological impairments causing an altered pattern of growth and development with associated hyperphagia i.e. Over-eating. It is a genetic disorder in which seven genes on chromosome 15 are either deleted or unexpressed on the paternal chromosome. There are three known causes for Prader-Willi syndrome; a) Imprinting mutation b) UDP (Uniparental Disomy) c) Deletion.
Frontal Lobe Syndrome Although volumetrically the frontal lobes are the largest portion of the brain their function remains somewhat elusive (Jacobs, 2005). Even neuropsychologists have a difficult time creating test that accurately test frontal lobe functioning. We do know however, that the frontal lobes are involved in the storage of memories, concentration, abstract thought, judgment, and self control. The frontal lobe lies directly behind our forehead (NINDS, 2005) It contains the
Lesch Nyhan Syndrome Lesch Nyhan Syndrome (LNS) was first reported in 1964 by Michael Lesch and William L. Nyhan. It is a rare disorder located on the x chromosome. It is a sex-linked trait, which means that it is passed from mother to son. This condition can be inherited or occur spontaneously as a result of a genetic mutation. It usually appears once in every 100,000 male births. Since the defective gene is recessive, females almost never exhibit symptoms of the disease. However, they can be carriers