Marfan syndrome features may include:
Tall and slender build
.
Disproportionately long arms, legs and fingers
.
A breastbone that protrudes outward or dips inward
.
What does a person with Marfan syndrome look like?
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.
Do people with Marfan syndrome look different?
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.
Why is it difficult to tell if someone has Marfan syndrome?
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.
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.
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.
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.
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.
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.
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.
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.
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.
Are there prenatal tests for Marfan syndrome?
If you have Marfan syndrome and want to know if your unborn baby also has the condition, you can have
prenatal testing at about 10 to 12 weeks using chorionic villus sampling
. This test involves taking and examining a small sample of placenta from the womb.
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.
How does someone get Marfan syndrome?
Marfan syndrome is
caused by a mutation in a gene called FBN1
. The mutation limits the body’s ability to make proteins needed to build connective tissue. One in four people with Marfan syndrome develops the condition for unknown reasons. A person with Marfan syndrome has a 1 in 2 chance of passing it on to their child.
Does Marfan syndrome affect intelligence?
Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. The lungs, skin, and nervous system may also be affected.
Marfan syndrome does not affect intelligence.
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.
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.
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 .
Do people with Marfan syndrome have autism?
Those affected have
marfanoid habit
and also other psychiatric manifestations such as autistic behaviour, mild-moderate mental retardation (there are some reported cases with normal intelligence), language disorders, emotional instability, aggressiveness, hyperactivity, shyness which can be extreme, obsessive- …
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.
Can you still play sports with Marfan syndrome?
The general guidelines for people with Marfan syndrome are to
avoid competitive and contact sports
that would put added stress on the aorta, cause chest or eye trauma, or be potentially damaging to loose ligaments and joints.
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.
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.
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 is the long term outlook for a child with Marfan syndrome?
Long-term outlook for a child with Marfan syndrome
Today, individuals with Marfan syndrome
can expect to live about 70 years or more
. For women with Marfan syndrome, pregnancy and childbirth pose significant risks.
Can Marfan syndrome go undetected?
The exact number is unknown
because the condition often goes undiagnosed. If it”s not caught in time, half of those who experience it die within 48 hours. The condition often occurs in people in their 30s and 40s who outwardly appear healthy.
What is a temporary teeth?
Deciduous teeth or primary teeth
, also informally known as baby teeth, milk teeth, or temporary teeth, are the first set of teeth in the growth and development of humans and other diphyodonts, which include most mammals but not elephants, kangaroos, or manatees which are polyphyodonts.
Does Marfan syndrome affect the kidneys?
The documented renal lesions in the Marfan syndrome include cystic lesions,
medullary sponge kidney
, recurrent nephrolithiasis and glomerular basement alterations.
