The most common symptoms that lead to suspicion of MFS are external features and deviations noted during physical examination such as remarkably high stature, asthenic body structure, dolichostenomelia, arachnodactyly, chest deformities, characteristic facial attributes and other abnormalities.
A genetic test can be used to examine the gene responsible for Marfan syndrome. It's able to detect an error that causes the syndrome in 99% of those affected. But the test is expensive and takes 3 months to complete.
Overview of Marfan Syndrome
Symptoms of Marfan syndrome can be mild to severe and vary because the condition can affect different areas of the body, including the: Skeleton, which includes bone and connective tissues such as ligaments, tendons, and cartilage.
Marfan syndrome is a congenital condition, meaning a person has it from birth. Physical signs sometimes present in infancy but more often show up later in childhood or adolescence. Marfan syndrome affects approximately 200,000 people in the United States; both men and women of any race or ethnic group may be affected.
Many people with Marfan syndrome have difficulty gaining weight, especially when they are younger, no matter how much they eat and how many protein shakes they consume. Some do find that they do put on weight, particularly around their middle, when they get older.
Examples of conditions that appear similar but have specific management are Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome.
People with Marfan syndrome are often tall and thin, with very long arms, legs, fingers, and toes. People who might have Marfan syndrome should be evaluated to help reduce the risk of potential heart problems. It isn't always easy to diagnose Marfan syndrome because it affects everyone a little differently.
Individuals with Marfan syndrome may have several distinct facial features including a long, narrow skull (dolichocephaly), deep-set eyes (enophthalmos), an abnormally small jaw (micrognathia) that may be recessed farther back than normal (retrognathia), abnormally flat cheek bones (malar hypoplasia), and an abnormal ...
Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes.
The patients of Marfan syndrome may have positive thumb sign and wrist sign, also known as Steinberg sign and Walker–Murdoch sign, respectively. Positive thumb sign means that the distal phalanx of the adducted thumb extends beyond the ulnar border of the palm.
Some people may not even realise they have the condition, because their features are either mild or not obvious. Symptoms may include: family history of the condition. long, narrow face.
Genetic testing uses blood tests to detect mutations in the FBN1 genes, even if you have no symptoms. Many different mutations within the FBN1 gene can cause Marfan syndrome, so no single blood test can diagnose the condition.
People with Marfan syndrome are often taller than expected for their family and slender with long fingers and toes. They also may have a long face, deep-set eyes, a small jaw, and a high-arched roof of the mouth with crowded teeth.
Interestingly, the final height of males with MFS is almost identical in different countries: 191.2±8.4 cm in France, 191.4±5.2 cm in Korea (9), and 191.3±9.0 cm (8) in the United States. This is true despite the difference in men's final height in each general population (174.4 vs.
Many people with Marfan syndrome and some related disorders have narrow jaws and high-arched palates, which can create dental and orthodontic problems.
Abraham Lincoln is the most famous American who had Marfan syndrome. So did Julius Caesar and Tutankhamen. In more recent times, Olympic swimmer Michael Phelps, basketball prospect Isaiah Austin and, perhaps, al-Qaeda leader Osama bin Laden had Marfan syndrome.
Marfan syndrome has been linked to more than 3,000 fibrillin-1 mutations. In the eye, the mutations weaken the zonule fibers to the point of breaking and letting go of the lens, a condition called ectopia lentis. People with Marfan syndrome have increased risk of glaucoma, cataract, and high myopia.
The most serious problems occur in the heart and aorta. An aortic aneurysm can happen when the aorta weakens and widens.
A blood test can help diagnose Marfan syndrome. This genetic test looks for changes in FBN1, the gene that is responsible for most cases of Marfan syndrome. A genetic counselor should review your genetic testing because FBN1 test results are not always obvious.
Children and young people may also display some behavioural and emotional problems and low self-esteem. They may suffer bullying or teasing at school if they have strong Marfanoid characteristics. They may additionally internalise their worries, resulting in withdrawal, physical complaints, anxiety and depression.
For people with Marfan syndrome active sports such as track, basketball, baseball, volleyball, football, and strenuous activities such as heavy lifting should be avoided because they cause additional heart strain.
Abdominal pain, bowel symptoms, heartburn, dyspepsia, and dysphagia were all significantly more common in the combined hypermobile group compared with controls.
Typically, a person's arm span should be less than their body height; an increased arm span to body height ratio of >1.05 is considered a positive sign for Marfan syndrome.