In 25 percent of cases, a new gene defect occurs due to an unknown cause. Marfan syndrome is also referred to as a “variable expression” genetic disorder, because not everyone with Marfan syndrome has the same symptoms to the same degree. Marfan syndrome is present at birth. However, it may not be diagnosed until adolescence or young adulthood.
How do you diagnose Marfan syndrome?
Marfan Syndrome Diagnosis
- Screening. To screen for Marfan syndrome, your healthcare provider may do a physical exam, including a check for certain features often found in people who have the condition.
- Medical history and physical exam. Your healthcare provider will ask about symptoms, your medical history, and your family’s medical history.
- Diagnostic tests and procedures. ...
What are the signs of Marfan syndrome?
What are the signs of Marfan Syndrome?
- Eyes. ...
- Skeleton. ...
- Heart. ...
- Ears, Nose and Throat (ENT) ENT problems as a result of any Skeletal characteristics in Marfan syndrome. ...
- Dental. ...
- Bowel gastrointestinal disturbances constituting irritable bowel syndrome (IBS) In the general population, IBS commonly first develops in young adults and teenagers. ...
When can you Tell your child has Marfan syndrome?
Signs and symptoms of Marfan syndrome are different for everyone. Sometimes they appear when a child is very young, or they may not show up until later in life as a teenager or an adult. Someone with Marfan syndrome often: Health care providers can diagnose Marfan syndrome by reviewing your family health history and giving your child medical tests.
What is the prognosis of Marfan syndrome (MFS)?
There is no cure for Marfan syndrome, but life expectancy has increased significantly over the last few decades and is now similar to that of the average person. Regular checkups are recommended to monitor the health of the heart valves and the aorta.
At what age is Marfan syndrome typically diagnosed?
We found a median age at diagnose of 19.0 years (range: 0.0–74).
How do I know if my child 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 Marfan syndrome be diagnosed at birth?
Marfan syndrome can lead to problems in many parts of the body, including the heart, lungs, bones and eyes. Marfan syndrome is a birth defect. Birth defects are health conditions that are present at birth.
What are 4 symptoms of 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.A high, arched palate and crowded teeth.Heart murmurs.Extreme nearsightedness.An abnormally curved spine.Flat feet.
What is the average height of someone with Marfan syndrome?
From 22 female patients, age of menarche was available and retrieved either by reviewing the charts or contacting the patients. Mean length at birth was 53 +/- 4.4 cm for males and 52.5 +/- 3.5 cm for females. Mean final height was 191.3 +/- 9 cm for males and 175.4 +/- 8.2 cm for females.
Can Marfan syndrome show up later in life?
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.
What is the life expectancy of a child with Marfan syndrome?
With advances in the diagnosis, evaluation, and management of the organ abnormalities associated with Marfan syndrome, the life expectancy for a person with the disease has nearly doubled in the past 25 years. Today, individuals with Marfan syndrome can expect to live about 70 years or more.
Is there a blood test for Marfan syndrome?
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.
Does Marfan syndrome get worse with age?
Marfan syndrome can be mild to severe, and may become worse with age, depending on which area is affected and to what degree. In Marfan syndrome, the heart is often affected. The aorta, the major artery of the body, may be more dilated (widened) than average.
How do you rule out Marfan syndrome?
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.
Can you be fat with Marfan syndrome?
Obesity is common in adults with Marfan syndrome and is associated with an increased risk of aortic complications.
What are 3 symptoms or signs that indicate a person may have Marfan syndrome?
Other physical characteristics of Marfan syndrome can include:a small lower jaw.a high, arched palate (roof of the mouth)deep-set eyes.flat feet.a breastbone (sternum) that either protrudes outwards or indents inwards.crowded teeth.
What tests are done to diagnose Marfan syndrome?
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.
What is the life expectancy of a child with Marfan syndrome?
With advances in the diagnosis, evaluation, and management of the organ abnormalities associated with Marfan syndrome, the life expectancy for a person with the disease has nearly doubled in the past 25 years. Today, individuals with Marfan syndrome can expect to live about 70 years or more.
Does Marfan syndrome affect the face?
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 ...
Does Marfan syndrome run in families?
In around three-quarters (75%) of cases, Marfan syndrome is inherited from 1 parent. The syndrome is autosomal dominant, which means a child can inherit it even if only 1 parent has the syndrome. There's therefore a 1 in 2 (50%) chance that the child of a parent with Marfan syndrome will inherit the syndrome.
How is Marfan syndrome diagnosed?
Recognizing the signs of Marfan syndrome is important for prevention and treatment of serious and even life-threatening complications. 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. Some people with Marfan syndrome don’t show signs of it until later in childhood or in adulthood.
What is Marfan syndrome?
Marfan syndrome is a genetic condition that affects connective tissue, which provides support for the body and organs. 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.
How many people have Marfan syndrome?
The mutation limits the body’s ability to make proteins needed to build connective tissue. 1, One in four people with Marfan syndrome develops the condition for unknown reasons. 1 A person with Marfan syndrome has a 1 in 2 chance of passing it on to their child. 1.
Does Marfan syndrome cause heart problems?
Not everyone with Marfan syndrome has all of the complications. People with Marfan syndrome must be closely followed by their doctor to watch for the following complications: Heart disease, including aortic aneurysms and problems with heart valves.
What Is Marfan Syndrome?
- Marfan syndrome is a genetic condition that affects connective tissue, which provides support for the body and organs. 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 deformit...
What Causes Marfan Syndrome?
- Marfan syndrome is rare, happening in about 1 in 5,000 people.1 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.1, One in four people with Marfan syndrome develops the condition for unknown reasons.1 A person with Marfan syndrome has a 1 in 2 chance of passing it on to their …
How Is Marfan Syndrome Diagnosed?
- Recognizing the signs of Marfan syndrome is important for prevention and treatment of serious and even life-threatening complications. 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 Ma…
How Is Marfan Syndrome Treated?
- Not everyone with Marfan syndrome has all of the complications. People with Marfan syndrome must be closely followed by their doctor to watch for the following complications: 1. Heart disease, including aortic aneurysms and problems with heart valves 2. Bone deformities such as scoliosis (a curved spine) or a breastbone that is sunken or sticks out 3. Eye conditions that can …
Additional Resources
- The Marfan Foundationexternal icon
- National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Healthexternal icon
- The National Heart, Lung, and Blood Instituteexternal icon
References
- U.S. National Library of Medicine, Genetics Home Reference. Marfan Syndromeexternal icon. Accessed May 9, 2019.
- Keane MG, Pyeritz RE. Medical management of Marfan syndromeexternal icon. Circulation. 2008;117(21):2802–13. Accessed May 9, 2019.