People with Marfan syndrome are often
very tall and thin
. Their arms, legs, fingers and toes may seem out of proportion, too long for the rest of their body. Their spine may be curved and their breastbone (sternum) may either stick out or be indented. Their joints may be weak and easily become dislocated.
How can you tell if someone has Marfan syndrome?
Marfan syndrome features may include:
Tall and slender build
.
Disproportionately long arms, legs and fingers
.
A breastbone that protrudes outward or dips inward
.
Does Marfan syndrome affect facial features?
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 …
Can you have a mild case of Marfan syndrome?
While most cases of Marfan syndrome are inherited, some are due to a spontaneous change in a gene, with no family history.
Marfan syndrome can be mild to severe
, and may become worse with age, depending on which area is affected and to what degree.
What can be mistaken for Marfan syndrome?
Examples of conditions that appear similar but have specific management are
Loeys-Dietz syndrome
and vascular Ehlers-Danlos syndrome.
How serious is Marfan syndrome?
The effects of Marfan syndrome range from
mild to life-threatening
. The most serious complications include damage to the heart valves, aorta, or both. It has no impact on cognitive ability. It is mainly an inherited condition, affecting 1 in every 5,000 people.
Does Marfan syndrome affect teeth?
In addition to the aforementioned multisystemic manifestations, MFS exhibits characteristic oral features including maxillary protrusion, high palate (Figure 2A),
crowded teeth
(Figure 2B), and fragility of the temporomandibular joint [8, 9]. A positive wrist sign in a patient with Marfan syndrome.
What does a child with Marfan syndrome look like?
People with Marfan syndrome are often
tall 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.
How is the family of a person with Marfan syndrome affected?
In about 3 out of 4 cases,
the gene is inherited from a parent
who is affected. Each child of an affected parent has a 1 in 2 chance of having the disorder (autosomal dominant inheritance). In about 1 out of 4 cases, the abnormal gene is from a new mutation. It is not inherited from a parent.
How does Marfan syndrome affect the eyes?
Many people with Marfan syndrome will need glasses because they will develop
myopia
(nearsightedness) or have astigmatism (abnormal curvature of the eye). Patients with Marfan syndrome may also have a higher chance of developing cataracts, glaucoma, strabismus and retinal detachment.
Is Marfan a disability?
If you are suffering from a severe case of Marfan syndrome and it has made you unable to work, you may be eligible to
Social Security disability benefits
. While people from all around the world, of all races and genders, can suffer from Marfan syndrome, the symptoms of the condition have a tendency to worsen with age.
What limitations does a person with Marfan syndrome have?
People who have Marfan syndrome may be
tall and thin with long arms, legs, fingers, and toes
, as well as flexible joints. The most serious complications are problems in the heart and blood vessels, such as weakening or bulging of the aorta.
How long can you live with Marfan syndrome?
One in 10 patients may have a high risk of death with this syndrome due to heart problems. Despite the high risk for Marfan related cardiovascular problems, the average life expectancy of those with Marfan syndrome is
nearly 70 years
. The life expectancy in this syndrome has increased to greater than 25% since 1972.
Does Marfan syndrome cause anxiety?
Baeza-Velasco and colleagues [20] showed that certain diseases of connective tissue (e.g. Marfan and Ehlers-Danlos syndrome) may be associated with various
psychiatric symptoms
, such as those of anxiety and depression. Connective tissue disorders are a source of frustration for patients.
What is a cigarette paper scar?
People with the classical form of
Ehlers-Danlos syndrome
experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic “cigarette paper” scars .
What happens to the body when you have Marfan syndrome?
Marfan syndrome can
damage the blood vessels, heart, eyes, skin, lungs, and the bones of the hips, spine, feet, and rib cage
. Some complications of Marfan syndrome can be treated or prevented, including heart disease, bone deformities such as a curved spine, eye conditions, crooked teeth, and collapsed lungs.
Does Marfan syndrome make you tired?
Marfan patients
have a high level of fatigue and orthostatic complaints
when compared to the general population. Fatigue and orthostatic tolerance are significantly correlated.
What is it called when you have long fingers?
Arachnodactyly (“spider fingers”)
is a condition in which the fingers and toes are abnormally long and slender, in comparison to the palm of the hand and arch of the foot.
What is LOEY Dietz syndrome?
Loeys-Dietz syndrome is
a connective tissue disorder
that was first described in 2005. Most individuals with this disorder have craniofacial features that include hypertelorism (widely spaced eyes) and a bifid or broad uvula.
Is there a blood test for Marfan syndrome?
A blood test can be used to help diagnose Marfan syndrome. This blood test is highly specialized and looks for
changes in FBN1
, the gene that is responsible for most cases of Marfan syndrome. Genetic counseling should accompany genetic testing because FBN1 testing is not always straightforward.
Is Marfan syndrome from birth?
Marfan syndrome is
a birth defect
. Birth defects are health conditions that are present at birth.
Can you tell if a baby has Marfan syndrome?
To be diagnosed with Marfan syndrome, your child must have some specific health problems affecting the heart, blood vessels, bones, and eyes. Your child may also have tests, such as:
Electrocardiography (ECG)
. A test that records the electrical activity of the heart.
Can you be a carrier of Marfan?
About 3 out of 4 people
with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who is a carrier of the gene. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.
What does it mean when your arm span is longer than your height?
For some people
with Marfan syndrome
, their arm span is greater than their height. In other words, they have unusually long arms. The geneticist may also ask if you or a family member had the gene test for Marfan syndrome.
How does marfans affect the skin?
People with Marfan syndrome often develop
stretch marks
because the tissue in their skin is weakened and the skin is not as elastic as it should be. If you have Marfan syndrome, stretch marks are most likely to appear on your: shoulders.
Is Marfan’s fatal?
How often is the condition fatal?
Marfan’s disease used to always be fatal
—a person wouldn’t normally live past the age of 45. Today, with aggressive treatment, people can live well beyond that. One of the difficulties is that in patients with Marfan’s disease you tend to chase the aorta.
Does marfans affect the brain?
These vascular abnormalities can be a cause of cerebral and spinal ischemia or hemorrhage. Indeed, ischemic events involving the brain or spinal cord are estimated to occur in
10% to 20% of patients
with Marfan syndrome. Aortic dissection is a major contributor to the premature mortality of Marfan syndrome.
Do all people with Marfan syndrome have heart problems?
Even though heart and blood vessel problems
affect about 9 out of every 10 people diagnosed with Marfan syndrome
, there is good news. If you get diagnosed, you have a lot of options, including having surgery, taking medications and changing your physical activities.
Does marfans cause hypertension?
People with Marfan syndrome are often prescribed a type of medicine called beta blockers to help prevent damage to their heart. Beta blockers are used to treat
high
blood pressure (hypertension). But most people with Marfan syndrome have low blood pressure (hypotension).
