Examples of conditions that appear similar but have specific management are Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome.
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 challenging for doctors to diagnose because many connective tissue disorders have similar signs and symptoms. Even among members of the same family, the signs and symptoms of Marfan syndrome vary widely — both in their features and in their severity.
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder associated with the mutation of the FBN1 gene. Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders with similar clinical features to MFS that often requires genetic testing to confirm a diagnosis of an EDS subtype.
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.
Marfan syndrome features may include: Tall and slender build. Disproportionately long arms, legs and fingers. A breastbone that protrudes outward or dips inward.
The Steinberg sign, also known as the thumb sign, is one of the clinical examination tests for Marfan disease in the hands. It is a clinical test in which the tip of the thumb is visible medial to the little finger when it is clasped in the clenched hand.
Some people are only mildly affected by Marfan syndrome, while others develop more serious symptoms.
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 ...
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 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.
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.)
Not all tall people have Marfan, but those who have it generally are much taller than average. In fact, medical experts speculate that more than a few of today's basketball stars are undiagnosed Marfan cases.
The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis ) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta ).
Signs of Marfan Syndrome
Tall and slender build. Loose joints (sometimes referred to as being double-jointed) Arm span longer than a person's height. Elongated fingers and toes.
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.
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.
One point can be assigned based upon facial characteristics if the patient shows at least three of the five typical facial characteristics including dolichocephaly, downward slanting palpebral fissures, enophthalmos, retrognathia and malar hypoplasia.
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.
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.
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.
Many people with Marfan syndrome and some related disorders have narrow jaws and high-arched palates, which can create dental and orthodontic problems.
Positive thumb sign means that the distal phalanx of the adducted thumb extends beyond the ulnar border of the palm. Positive wrist sign means that the thumb and fifth finger of the hand overlap with each other. In 1896, Marfan syndrome was named after Antoine Marfan, who discovered it.
Diagnostic tests and procedures
A chest CT scan may also check the connective tissue around your spinal cord. Echocardiography (echo) views and measures the size of your aorta and checks the heart's valves. Genetic testing uses blood tests to detect mutations in the FBN1 genes, even if you have no symptoms.
If there is not a coordinated clinic in your area, we recommend making an appointment with a geneticist or cardiologist because they are usually the specialists with the most expertise in these conditions and can provide appropriate referrals to other necessary specialists. The Marfan Foundation can help.