Abstract. Early onset Marfan syndrome is the most severe form of Marfan syndrome diagnosed during perinatal period. Early onset Marfan syndrome is associated with high mortality rates, usually within the first 2 years of life.
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 features may include: Tall and slender build. Disproportionately long arms, legs and fingers. A breastbone that protrudes outward or dips inward.
People are born with Marfan syndrome but they may not notice any features until later in life and some of these features can appear at any age. Some people have many characteristics at birth or as young children. Other people develop aortic enlargement, as teens or even as adults.
Major symptoms include overgrowth of the long bones of the arms and legs, abnormal side-to-side curvature of the spine (scoliosis), indentation or protrusion of the chest wall (pectus deformity), dislocation of the lenses of the eyes (ectopia lentis), nearsightedness (myopia), widening (aneurysm) and tear (dissection) ...
Signs and Symptoms
Marfan syndrome affects approximately 1 in 5,000 people, and includes men and women of all ethnic groups. The signs and symptoms manifests differently between individuals, and can take many years to develop. Some features include tall stature, long fingers, flexible joints, or high arched palates.
The symptoms of Marfan syndrome differ from one person to the next, depending on which body part is affected and to what degree. Some people may not even realise they have the condition, because their features are either mild or not obvious.
Both Marfan and Loeys-Dietz syndromes affect the connective tissue of the heart, spine, joints and eyes, but Loeys-Dietz is also marked by twisted arteries that are prone to aneurysms, a feature absent in Marfan.
Marfan syndrome can be difficult to diagnose because the signs and symptoms can vary from person to person. In most cases, a diagnosis will be based on a thorough physical examination and a detailed assessment of a person's medical and family history.
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.
The most life threatening complication of Marfan syndrome is aortic aneurysm which can lead to aortic dissection, rupture or both.
Marfan syndrome is estimated to occur in at least 1 in 5000 persons, and impacts all races and ethnic groups. Although present at birth, it may not be diagnosed until adolescence or young adulthood. Left untreated, the average life expectancy for a patient with Marfan syndrome is 45 years.
Some do find that they do put on weight, particularly around their middle, when they get older. (And while Marfan syndrome is frequently associated with being very thing, it is possible to be heavy and have Marfan syndrome.)
'Marfanoid' was used to describe males who were initially ascertained on account of mental retardation (366). Those affected were not actually tall, but were slender, had elongated arms, and had characteristic craniofacial features of a long narrow face, retrognathia, and a highly arched palate.
According to medical professionals, the reason why so many people with Marfan syndrome simply cannot gain weight isn't fully understood, but they believe it may have something to do with the underdeveloped muscles that are associated with Marfan syndrome.
Genetic testing is often used to confirm the diagnosis of Marfan syndrome. If a Marfan mutation is found, family members can be tested to see if they are also affected.
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.
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.
The major skin and integument criterion is lumbosacral dural ectasia, as depicted by computed tomography (CT) or magnetic resonance imaging (MRI). The minor skin and integument criteria are as follows: Striae atrophicae that are not associated with pregnancy or repetitive stress. Recurrent or incisional hernia.
Not all tall people have Marfan, but those who have it generally are much taller than average.
A person with Marfan syndrome may exhibit long limbs and spider-like fingers, chest abnormalities, curvature of the spine and a particular set of facial features including a highly arched palate, and crowded teeth.
Fourth, although it is known that mutations in the FBN1 gene, which encodes the matrix protein fibrillin 1, are the predominant (if not the sole) cause of classic Marfan's syndrome, there is no rapid and efficient molecular diagnostic test. The disease occurs worldwide, with no predilection for either sex.
If your doctor strongly suspects Marfan syndrome, a 29-gene genetic test is performed to look for mutations associated with Marfan syndrome and other genetic conditions that affect the body in a similar way. Genetic testing is done with an at-home saliva test kit or an in-office blood test.
Patients with Marfan syndrome have a higher chance of having certain eye conditions. Many people with Marfan syndrome will need glasses because they will develop myopia (nearsightedness) or have astigmatism (abnormal curvature of the eye).