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What is marfansyndrome?
Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of the connective tissue. People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers.
What are some symptoms of marfan syndrome?
people with marfan syndrome are typically very tall with loose jointed. people with marfan disease usually have long narrow faces.
When marfan syndrome was discovered?
Marfan syndrome was first described by Antoine Marfan, a French pediatrician, in 1896. He identified the unique characteristics of the syndrome, including tall stature, long limbs, and heart problems.
The inheritance of Marfan syndrome is an example of?
The "autosomal dominant" method of inheritance. if your question as Marfan syndrome is the result of inheriting a single allele. Individuals with Marfan syndrome are tall and long-limbed, and have both cardiovascular and eye defects. The inheritance of Marfan syndrome is an example of ______. then the answer is pleiotropy
What gene is marfan syndrome?
Marfan syndrome is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. These mutations can affect the structure and function of connective tissue, leading to the characteristic features of Marfan syndrome such as tall stature, long limbs, and heart abnormalities.
What effect can the Marfan's syndrome have on you?
Some of the effects on a person with Marfan's syndrome might be that they would have bad eyesight, they would be abnormally tall (7ft), they might also have a long face and loose joints.
How long do you live if you have marfan syndrome?
people can live up to 60 to 70 years.
What are common external signs of Marfan syndrome?
The most common external signs associated with Marfan syndrome include excessively long arms and legs, with the patient's arm span being greater than his or her height.
What other name is Marfan syndrome known by?
Marfan syndrome is sometimes called arachnodactyly, which means "spider-like fingers" in Greek, since one of the characteristic signs of the disease is disproportionately long fingers and toes.
Does marfan syndrome affect the aorta?
Yes. Marfan syndrome is a congenital disorder affecting the formation of fibrillin. In Marfan syndrome, the abnormal fibrillin is responsible for many of the findings of the disease. Hyperextensibility/hyperelasticity of joints is one of the hallmark signs. Pectus excavatum is another. People with Marfan syndrome are typically very tall and thin, with very long fingers and toes (arachnodactyly). The fibrillin defect also affects the blood vessels, especially the large arteries, such as the aorta. Disordered fibrillin production causes these arteries to be weaker than normal, predisposing patients with Marfan syndrome to aortic dissections and rupture. This the major cause of death for patients with Marfan syndrome.
What type of mutation causes marfan syndrome?
Marfan syndrome is typically caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. These mutations can result in the production of an abnormal fibrillin-1 protein, leading to the characteristic features of Marfan syndrome such as tall stature, long limbs, and cardiovascular issues.
Is marfan syndrome pyshical or mental?
Marfan syndrome primarily affects the physical aspect of a person's health. It is a genetic disorder that primarily affects the connective tissue in the body, leading to physical symptoms such as long limbs, joint hypermobility, and heart problems. There is no evidence to suggest that Marfan syndrome directly affects mental health.
