Marfan syndrome. Medical search. Frequent questions

Many people with Marfan syndrome have additional heart problems including a leak in the valve that connects two of the four chambers of the heart (mitral valve prolapse) or the valve that regulates blood flow from the heart into the aorta (aortic valve regurgitation). (medlineplus.gov)
Many people with Marfan syndrome eventually require preventive surgery to repair the aorta. (mayoclinic.org)
With Marfan syndrome, the walls of the aorta can weaken and stretch, which may lead the aortic valve to leak and tear, or they can develop a bulge, known as an aneurysm. (medicalert.org)
People with Marfan syndrome are often prescribed a type of medication called beta-blockers to improve the heart's ability to relax and prevent or slow down the enlarging of the aorta. (medicalert.org)
Close surveillance of the Marfan aorta is recommended during pregnancy. (digitalnaturopath.com)
The aim of our clinical trial is to assess the efficacy and safety of losartan versus atenolol in the prevention of progressive dilation of the aorta in patients with Marfan syndrome. (druglib.com)
Other body areas affected by Marfan syndrome include lung tissue, the eyes (causing cataracts and slipped corneas), the skin (which is hyperelastic), the aorta, which can become weak and rupture, and the meninges covering the spinal cord. (medneg.com.au)
Pregnant women with Marfan syndrome need careful watching so they don't have complications of pregnancy due to their abnormal heart and aorta. (medneg.com.au)
Complications of Marfan syndrome include rupture of the aorta, regurgitation of the aortic valve, endocarditis from bacteria, dissecting aortic aneurysm, heart failure, scoliosis, mitral valve prolapse and visual disturbances from nearsightedness or dislocated lens. (medneg.com.au)
A serious problem caused by Marfan syndrome can occur if the heart and the aorta, the body's main artery, are significantly affected. (wales.nhs.uk)

More than 30 signs and symptoms are variably associated with Marfan syndrome. (wikipedia.org)
The most serious signs and symptoms associated with Marfan syndrome involve the cardiovascular system: undue fatigue, shortness of breath, heart palpitations, racing heartbeats, or chest pain radiating to the back, shoulder, or arm. (wikipedia.org)
The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. (medlineplus.gov)
The signs and symptoms of Marfan syndrome can vary greatly, even among members of the same family, because the disorder can affect so many different areas of the body. (mayoclinic.org)
Unfortunately, there is no cure for Marfan syndrome because gene mutations cannot be fixed or reversed, so treatment is aimed at managing symptoms as well as preventing potential issues. (medicalert.org)
However, none of the existing animal models of fibrillin-1 mutations replicate the eye symptoms that we see in people with Marfan syndrome. (nih.gov)
And they exhibited other Marfan-like symptoms, including cataract and abnormal enlargement of the eyeball, a condition thought to be responsible for high myopia in people with Marfan syndrome. (nih.gov)
What Are the Symptoms of Marfan's Syndrome? (carle.org)
No major symptoms are usually seen with Marfan's syndrome, so it can be hard to diagnose in children. (carle.org)
DO call your health care provider if you think that you or your family members have symptoms of the syndrome. (carle.org)
Marfan syndrome has no cure, but treatments can help people manage symptoms. (medicalnewstoday.com)
The typical symptoms of Marfan syndrome include a tall stature with thin arms, spider-like fingers-a medical condition known as arachnodactyly. (medneg.com.au)
Some people are only mildly affected by Marfan syndrome, while others develop more serious symptoms. (wales.nhs.uk)
Diagnosing Marfan syndrome can be difficult as the symptoms can vary significantly from person to person. (wales.nhs.uk)
As the symptoms of Marfan syndrome do not always develop during childhood, it may not be identified until the teenage years. (wales.nhs.uk)
There's no cure for Marfan syndrome, so treatment focuses on managing the symptoms and reducing the risk of complications. (wales.nhs.uk)
The symptoms of Marfan syndrome tend to get more severe as a person gets older. (wales.nhs.uk)
It's a rare syndrome, and your child will usually have a number of other symptoms if they have it. (wales.nhs.uk)
Born with Marfan syndrome, Bradford Cox first noticed symptoms of the illness around the age of 10. (tenmania.com)
Marfan symptoms vary from patient to patient but may include tall and slender build, disproportionate long arms, legs and finders, abnormal breastbone appearance, a high and arched palate with crowded teeth, heart murmurs, extreme nearsightedness, abnormally curved spine, and flat feet. (alike.health)

The mutations responsible for Marfan syndrome weaken the zonules and cause them to stretch. (wikipedia.org)
Mutations in the FBN1 gene cause Marfan syndrome. (medlineplus.gov)
Marfan syndrome has been linked to more than 3,000 fibrillin-1 mutations. (nih.gov)
The majority of mutations affecting the human fibrillin-1 gene, FBN1, result in Marfan syndrome (MFS), a common connective tissue disorder characterised by tall stature, ocular and cardiovascular defects. (eurekamag.com)
Recently, stiff skin syndrome (SSS) and a group of syndromes known collectively as the acromelic dysplasias, which typically result in short stature, skin thickening and joint stiffness, have been linked to FBN1 mutations that affect specific domains of the fibrillin-1 protein. (eurekamag.com)
Mutations in the FBN1 or fibrillin gene on chromosome 15 cause a genetic disorder called Marfan syndrome. (cshl.edu)
Prevention of Marfan syndrome is not really all that possible because there are so many spontaneous mutations. (medneg.com.au)
The syndrome is associated with mutations of the Fibrillin-1 (FBN-1) proteins [ 1 ] which normally acts to regulate transforming growth factor beta (TGF-β) in the extracellular matrix [ 3 ]. (e-roj.org)

This autosomal dominant syndrome has pleiotropic manifestations involving primarily the ocular, cardiovascular, and skeletal systems. (medscape.com)
Stickler syndrome is an autosomal dominant disorder , which means a person needs only one altered gene to develop the condition. (medicalnewstoday.com)
The same gene is mutant in the autosomal dominant form of the Weill-Marchesani syndrome ( 608328 ) which is allelic to the Marfan syndrome. (arizona.edu)
It is an autosomal dominant disease so that fifty percent of children of Marfan syndrome patients can get the disease. (medneg.com.au)
Marfan syndrome (MFS) is a spectrum disorder caused by a heritable genetic defect of connective tissue that has an autosomal dominant mode of transmission. (medscape.com)
The syndrome is autosomal dominant, which means a child can inherit it even if only 1 parent has the syndrome. (wales.nhs.uk)
Marfan syndrome (MFS) is an inherited autosomal dominant trait with an incidence of 1 in 5,000 individuals [ 1 ]. (e-roj.org)

Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength. (mayoclinic.org)
Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder. (mayoclinic.org)
In about 25% of the people who have Marfan syndrome, the abnormal gene comes from neither parent. (mayoclinic.org)
Marfan syndrome is caused by a defect in a gene called FBN1 , which contains instructions for producing a protein known as fibrillin, a major component of connective tissue. (medicalert.org)
Most people with Marfan inherit it from a parent who has the condition, and each child of a parent with Marfan has a 50-50 chance of inheriting the defective gene. (medicalert.org)
This syndrome is caused by a genetic defect (gene mutation). (carle.org)
Marfan syndrome arises from a change in a gene that codes for the protein fibrillin, which is a key component of connective tissue. (medicalnewstoday.com)
Marfan's syndrome is associated with a mutation of the FBN1 gene. (healthline.com)
Marfan syndrome is caused by a defect in the gene called fibrillin-1. (medneg.com.au)
The mutated gene can be passed on to the child, who will then go on to develop the syndrome. (wales.nhs.uk)
Marfan syndrome is caused by a mutation in the gene that regulates the body's production of fibrilliin-1. (tenmania.com)
An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: the use of minigene assay in splicing analysis. (ox.ac.uk)

There is no cure for Marfan syndrome, but the treatment focus is to prevent complication that may occur. (alike.health)

Funding for this research was provided by the National Eye Institute, Research to Prevent Blindness, and the National Marfan Foundation. (nih.gov)

The syndrome isn't curable, but diagnosis and proper treatments prolong life. (carle.org)
Although serious and vision threatening manifestations may occur in the eye in cases of Marfan's syndrome, early diagnosis and prompt treatment may be able to salvage vision. (nepjol.info)
In 99% of cases, a genetic test can be used to confirm a diagnosis of Marfan syndrome. (wales.nhs.uk)
In most cases, a diagnosis of Marfan syndrome is based on a thorough physical examination and a detailed assessment of a person's medical and family history. (wales.nhs.uk)
Accurate and early diagnosis of Marfan syndrome is essential as the disorder can be life-threatening if it is not properly monitored and treated. (tenmania.com)
Marfan is not easy to suspect, but when the suspicion arises genetic testing may confirm the diagnosis. (alike.health)
We present a patient with a history of Marfan syndrome requiring radiation for a diagnosis of a right brachial plexus malignant nerve sheath tumor. (e-roj.org)
10-15% of individuals with a clinical diagnosis of Marfan Syndrome will have a mutation in the coding regions of TGFBR2. (nih.gov)

Marfan syndrome (MFS) is an inherited connective tissue disorder noteworthy for its worldwide distribution, relatively high prevalence, and clinical variability. (medscape.com)
Ehlers-Danlos syndrome hypermobility type is a connective tissue disorder that predominantly affects the skeletal system. (marfan.org)

It is named after French pediatrician Antoine Marfan, who first described it in 1896. (wikipedia.org)

Marfan syndrome typically has skeletal, ocular and cardiovascular abnormalities. (arizona.edu)
The connective system particularly affects the cardiovascular system, the eyes, the skin and the skeletal system in Marfan syndrome. (medneg.com.au)
Marfan syndrome can affect many parts of the body, including the skeleton, eyes, and heart and blood vessels (cardiovascular system). (wales.nhs.uk)
The Marfan Syndrome (MFS), the most common disorder of connective tissue, is characterized by ocular, cardiovascular, and skeletal abnormalities. (nebraska.edu)

What Is Marfan's Syndrome? (carle.org)
Marfan's syndrome is an inherited disorder involving the body's connective tissues. (carle.org)
How Is Marfan's Syndrome Diagnosed? (carle.org)
How Is Marfan's Syndrome Treated? (carle.org)
DO get genetic counseling if you have a family history of Marfan's syndrome. (carle.org)
In addition she had Marfan's syndrome due to a new mutation and transmitted Marfan's syndrome to one of her daughters who did not have polysyndactyly. (bmj.com)
Apparently the association of Marfan's syndrome with polysyndactyly has not been previously described. (bmj.com)
Also known as arachnodactyly, Marfan's syndrome is a rare hereditary disorder that causes connective tissue to be weaker than normal. (digitalnaturopath.com)
Marfan's syndrome is known to be a rare, multisystem disorder of connective tissue typically affecting cardiac, skeletal and ocular system. (nepjol.info)
General examination of patient revealed physical features suggestive of Marfan's syndrome. (nepjol.info)
Although genetic testing was not possible, all features were suggestive of Marfan's syndrome according to revised Ghent criteria. (nepjol.info)
Marfan's syndrome involves the connective tissue, which provides strength and form to the body's structures. (healthline.com)
Telescopic aortic arch is a consequence of aortic dissection in Marfan's syndrome, which has not been reported previously. (bezmialem.edu.tr)

The Steinberg sign, also known as the thumb sign, is one of the clinical examination tests for Marfan disease in the hands. (wikipedia.org)
If you or your child has Marfan syndrome, your clinical team will pass information about you or your child on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). (wales.nhs.uk)
Marfan syndrome is one of the collagen vascular diseases that theoretically predisposes patients to excessive radiation-induced fibrosis yet there is minimal published literature regarding this clinical scenario. (e-roj.org)
Clinical manifestations of the syndrome range from aortic root aneurysm with consequent dissection, long bone overgrowth, and ectopia lentis [ 2 ]. (e-roj.org)
Note - because of the high degree of variability of the syndrome, many of these clinical characteristics can be present at birth or they can manifest later in childhood. (healthguidenet.com)

Loeys-Dietz Syndrome with aortic aneurysm or dissection. (bvsalud.org)

Study of the efficacy and safety of losartan versus atenolol for aortic dilation in patients with Marfan syndrome]. (druglib.com)
Pravastatin has been reported to reduce aortic dilation in marfan mice. (arizona.edu)

A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia) in people with Marfan syndrome. (medlineplus.gov)

Because connective tissue is found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. (medlineplus.gov)
The health care provider may suspect that the syndrome is present from the family history and a physical examination that shows certain abnormalities. (carle.org)

Besides affecting height and limb proportions, people with Marfan syndrome may have abnormal lateral curvature of the spine scoliosis, thoracic lordosis, abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum, abnormal joint flexibility, a high-arched palate with crowded teeth and an overbite, flat feet, hammer toes, stooped shoulders, and unexplained stretch marks on the skin. (wikipedia.org)

Ehlers-Danlos Syndrome hypermobility type is one of six different types of Ehlers-Danlos syndromes, and it is the most common. (marfan.org)
What other names do people use for Ehlers-Danlos syndrome hypermobility type? (marfan.org)
What are the characteristics of Ehlers-Danlos syndrome hypermobility type? (marfan.org)
How is Ehlers-Danlos syndrome hypermobility type managed? (marfan.org)
Find these answers and more in the "Ehlers-Danlos Syndrome Hypermobility Type" download. (marfan.org)
There are more than 200 of these conditions, including genetic disorders such as Ehlers-Danlos syndrome, autoimmune disorders such as scleroderma , and cancers such as soft tissue sarcomas . (medicalnewstoday.com)

People with Marfan syndrome are at up to 250 times greater risk of aortic dissection (a tear or rupture between layers of the aortic wall) than the general population. (marfan.org)
Panzer S, Thompson RC, Hergan K, Zink AR, Piombino-Mascali D. Evidence of aortic dissection and Marfan syndrome in a mummy from the Capuchin Catacombs of Palermo, Sicily . (arizona.edu)
The autopsy found that Hyman had suffered from undiagnosed Marfan syndrome, which had caused an aortic dissection that had never been discovered. (tenmania.com)

Currently, the standard of care in MFS is to obtain confirmatory molecular diagnostics on patients with the syndrome and their family members, due to the variable expression of MFS and the diagnosable "look-alike" conditions. (medscape.com)
However, about 25% of patients with Marfan develop the condition for unknown reasons. (medicalert.org)
Study design: A retrospective study based on data collected from members of the Dutch Association of Marfan patients. (eur.nl)
A total of 150 subjects diagnosed with Marfan syndrome, aged between 5 and 60 years, of both sexes, and who meet the Ghent diagnostic criteria will be included in the study, with 75 patients per treatment group. (druglib.com)
Patients with the Marfan phenotype are usually tall with disproportionately long limbs (dolichostenomelia) and digits (arachnodactyly). (arizona.edu)
It isn't known exactly why Marfan syndrome patients grow to be so tall. (medneg.com.au)
Marfan syndrome patients cannot engage in heavy athletics and shouldn't do contact sports so the heart is protected. (medneg.com.au)
Our case reports presents a review of the literature of patients with Marfan syndrome requiring radiation therapy and the limitations of serum markers on predicting long-term toxicity. (e-roj.org)
Subclinical diastolic dysfuntion in patients with preclinical heart failure with preserved ejection fraction (HFpEF) has been demonstrated in patients with Marfan syndrome (MFS). (scipedia.com)
NT-proBNP was 70.6 ± 74.8 pg/ml in patients with Marfan syndrome and 58.4 ± 100.3 pg/ml in controls (p = 0.002, Kolmogorov-Smirnov). (scipedia.com)
In this meta-analysis , we identified relevant trials of patients with Marfan syndrome by systematically searching MEDLINE , Embase, and CENTRAL from database inception to Nov 2, 2021. (bvsalud.org)
Afin de préciser le statut en sélénium à Cotonou les auteurs ont dosé le sélénium plasmatique chez 10 béninoises(âge moyen = 27,1 ans) atteintes de CMPP, chez 18 patients/es atteints/es de CMD (11 femmes,7 hommes, âge moyen = 38,9 ans) et chez 46 béninoises « témoins » en bonne santé ayant accouché récemment (âge moyen = 29,8 ans). (bvsalud.org)

In Marfan syndrome, the health of the eye can be affected in many ways, but the principal change is partial lens dislocation, where the lens is shifted out of its normal position. (wikipedia.org)
Subluxation (partial dislocation) of the lens can be detected clinically in about 60% of people with Marfan syndrome by the use of a slit-lamp biomicroscope. (wikipedia.org)

Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. (wikipedia.org)
Marfan syndrome is an inherited disorder that affects connective tissue - the fibers that support and anchor your organs and other structures in your body. (mayoclinic.org)
Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton. (mayoclinic.org)
Marfan syndrome affects men and women equally and occurs among all races and ethnic groups. (mayoclinic.org)
Marfan syndrome is a genetic condition that affects the body's connective tissues (i.e., the fibers that bind and support all internal organs and structures). (medicalert.org)
Marfan syndrome is a genetic disorder that affects the body's connective tissue. (positiveexposure.org)
As Marfan syndrome affects several different parts of the body, you'll be treated by a team of different healthcare professionals. (wales.nhs.uk)
According to the Marfan Foundation, this genetic disorder affects the body's connective tissue, which helps hold the cells, organs, and tissues together. (tenmania.com)
Marfan syndrome is an inherited disease that affects the body's connective tissue, which provides support, strength, and elasticity to blood vessels, cartilage, heart valves, tendons, and other important parts of the physical body. (healthguidenet.com)

Dietz HC, Pyeritz RE, Hall BD, Cadle RG, Hamosh A, Schwartz J, Meyers DA, Francomano CA. The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3 . (arizona.edu)

Someone with Marfan syndrome may have several distinct physical characteristics. (wales.nhs.uk)

If you have Marfan syndrome, you need to take prophylactic antibiotics before dental procedures so you can avoid bacterial endocarditis. (medneg.com.au)

Many people with Marfan syndrome grow to above-average height, and some have disproportionately long, slender limbs with thin, weak wrists and long fingers and toes. (wikipedia.org)
People with Marfan sydrome tend to be taller and thinner than average with disproportionately long fingers and limbs. (nih.gov)

Some people with Marfan have speech disorders resulting from symptomatic high palates and small jaws. (wikipedia.org)
Although Marfan syndrome is rare, affecting about 1 in 5,000 people in the UK, it's one of the most common connective tissue disorders. (wales.nhs.uk)
This original and unexpected finding of linkage between distinct fibrillin genes and phenotypically related syndromes implies that defects in these newly discovered matrix components are the cause of this rather common group of connective tissue disorders. (nebraska.edu)
People who have KS have an increased risk for autoimmune disorders, like - rheumatoid arthritis, lupus, and Sjogren's syndrome. (healthguidenet.com)

People who have Marfan syndrome typically have especially long fingers. (mayoclinic.org)

Pregnancies and neonatal outcomes of affected mothers were compared with those of non-affected mothers who delivered a Marfan infant. (eur.nl)

occurs more frequently in people with Marfan syndrome than in those without the condition. (medlineplus.gov)
People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes. (mayoclinic.org)
MedicAlert's protection plans offer benefits that extend beyond the ID, providing safety and peace of mind for people living with Marfan syndrome, their families and caregivers. (medicalert.org)
Marfan syndrome is a rare disorder affecting approximately 200,000 people in the United States, including men and women of all races and ethnic groups. (medicalert.org)
People with Marfan syndrome also have a higher risk of developing eye problems that could require surgical intervention, like cataracts. (medicalert.org)
However, most people living with Marfan syndrome can and should engage in regular low-intensity physical exercise. (medicalert.org)
People with Marfan syndrome have increased risk of glaucoma, cataract, and high myopia. (nih.gov)
Many people with the Marfan syndrome can participate in modified physical and recreational activities without being overly concerned. (digitalnaturopath.com)
People with Marfan syndrome tend to be tall and slender with long limbs, fingers, and toes. (medicalnewstoday.com)
People with Marfan syndrome may be more prone to aortic aneurysms . (medicalnewstoday.com)
People with Down Syndrome (DS) have an excess of genetic material in their cells. (cshl.edu)
The vast majority of people with this syndrome have an extra copy of chromosome 21. (cshl.edu)
Many people around the world live with Marfan syndrome every day. (tenmania.com)
There are some notable examples of famous people with Marfan syndrome that have overcome the obstacles that this genetic disorder poses and have reached their dreams despite their health issues. (tenmania.com)
To help give you a motivation boost for your next personal challenge, we thought it would be a good idea to share some of the most inspiring stories of famous people with Marfan syndrome that didn't take no for an answer. (tenmania.com)
People that are born with this syndrome may also suffer physical changes in their appearance. (tenmania.com)
Despite the issues that that can affect individuals born with this genetic disorder, history has shown us that there have been many famous people with Marfan syndrome that have overcome substantial challenges and reached their goals. (tenmania.com)
Here are the top 10 famous people with Marfan syndrome that have impressed us with their unique stories, abilities, and achievements. (tenmania.com)
People with Marfan syndrome tend to be tall and thin with long arms and legs. (alike.health)
In people with Marfan syndrome and no previous aortic surgery , ARBs reduced the rate of increase of the aortic root Z score by about one half, including among those taking a ß blocker. (bvsalud.org)

Individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes (arachnodactyly), loose joints, and have an arm span that exceeds their body height. (medlineplus.gov)

These mice provide a useful model for testing new therapies for Marfan syndrome," said Bassnett. (nih.gov)
2022). Male Marfan mice are predisposed to high fat diet induced obesity, diabetes, and fatty liver. (mcgill.ca)

Together, these studies will establish the framework for understanding how altered fibrillin metabolism translates into the phenotypic spectrum of MFS and related syndromes. (nebraska.edu)

Most individuals with Marfan syndrome have some degree of nearsightedness ( myopia ). (medlineplus.gov)

The incidence of Marfan syndrome is approximately 1 in 5,000 worldwide. (medlineplus.gov)

Marfan syndrome is a disorder of the body's connective tissues, a group of tissues that maintain the structure of the body and support internal organs and other tissues. (wales.nhs.uk)

The damage caused by Marfan syndrome can be mild or severe. (mayoclinic.org)
He suffers from a severe form of Scoliosis, a progressive spinal deformity that requires immediate surgery, and Marfan Syndrome, a connective tiss. (niacouncil.org)

Anatomy5

Diseases15

Chemicals and Drugs2

Analytical, Diagnostic and Therapeutic Techniques and Equipment2

Phenomena and Processes2

Aorta10

Symptoms20

Mutations8

Autosomal dominant7

Gene12

Cure for Marfan syndrome1

National Marfan Foundation1

Diagnosis8

Connective tissue d2

Antoine Marfan1

Cardiovascular4

Marfan's Syndrome13

Clinical5

Loeys-Dietz Sy1

Aortic dilation2

Abnormally1

Abnormalities2

Abnormal1

Ehlers-Danlos S6

Dissection3

Patients12

Lens2

Affects9

Chromosome 151

Characteristics1

Prophylactic1

Disproportionately long2

Disorders4

Typically1

Neonatal1

People20

Slender1

Mice2

Fibrillin1

Nearsightedness1

5,0001

Body's connective tissues1

Severe2