National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Marfan syndrome

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Other Names:
Contractural arachnodactyly
Categories:
Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation.[1][2] Treatment is based on the signs and symptoms in each person.[2]
Last updated: 1/26/2017
The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Affected individuals often are tall and lean, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds body height.

Other common features of Marfan syndrome include:
  • Unusually flexible joints
  • Long and narrow face
  • Highly arched roof of the mouth
  • Crowded teeth
  • Scoliosis
  • Sunken chest (pectus excavatum) or a protruding chest (pectus carinatum)
  • Eye issues: About half of people with Marfan syndrome have a dislocated lens (ectopia lentis) in one or both eyes, and most have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid adulthood, and increased pressure within the eye (glaucoma) occurs more frequently than in people without Marfan syndrome.
  • Most people with Marfan syndrome have abnormalities of the heart and the aorta. Leaks in valves that control blood flow through the heart can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations). If leakage occurs, it usually affects the mitral valve, which is a valve between two chambers of the heart, or the aortic valve that regulates blood flow from the heart into the aorta. The first few inches of the aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). The increased size of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening.[3]

Other signs and symptoms may include:[4]

  • Stretch marks in the skin
  • Abdominal or inguinal hernia, in which a bulge develops that contains part of the intestines
  • Lung problems (rarely).
Last updated: 1/26/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 87 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Arachnodactyly
Long slender fingers
Spider fingers
[ more ] 		0001166
Ascending tubular aorta aneurysm
Bulging of wall of large artery located above heart
0004970
Chronic fatigue
Chronic extreme exhaustion
0012432
Disproportionate tall stature 0001519
Pectus carinatum
Pigeon chest
0000768
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Slender build
Thin build
0001533
Spontaneous pneumothorax
Spontaneous collapsed lung
0002108
Striae distensae
Stretch marks
0001065
30%-79% of people have these symptoms
Abnormality of malar bones 0012369
Arthralgia/arthritis
Joint pain/Joint inflammation
0005059
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] 		0000678
Dural ectasia 0100775
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] 		0002705
Increased axial length of the globe
Increased front to back length of eyeball
0007800
Joint hypermobility
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] 		0001382
Lens luxation
Dislocated lens
0012019
Lens subluxation
Partially dislocated lens
0001132
Mitral valve prolapse 0001634
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Narrow face
Decreased breadth of face
Decreased width of face
[ more ] 		0000275
Pectus excavatum
Funnel chest
0000767
Protrusio acetabuli 0003179
Scoliosis 0002650
Sleep disturbance
Difficulty sleeping
Trouble sleeping
[ more ] 		0002360
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
5%-29% of people have these symptoms
Aortic tortuosity 0006687
Arterial dissection 0005294
Ascending aortic dissection 0004933
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] 		0007018
Cachexia
Wasting syndrome
0004326
Cleft palate
Cleft roof of mouth
0000175
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Descending aortic dissection 0012499
Dilatation of an abdominal artery 0002636
Dolichocephaly
Long, narrow head
Tall and narrow skull
[ more ] 		0000268
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Emphysema 0002097
Esotropia
Inward turning cross eyed
0000565
Exotropia
Outward facing eye ball
0000577
Flat cornea 0007720
Glaucoma 0000501
Hemoptysis
Coughing up blood
0002105
Hypoplasia of the iris
Underdeveloped iris
0007676
Inguinal hernia 0000023
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Limited elbow movement
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion
[ more ] 		0002996
Meningocele 0002435
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Mitral valve calcification 0004382
Muscular hypotonia
Low or weak muscle tone
0001252
Myalgia
Muscle ache
Muscle pain
[ more ] 		0003326
Open bite
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ] 		0010807
Osteopenia 0000938
Osteoporosis 0000939
Pulmonary artery dilatation 0004927
Retinal detachment
Detached retina
0000541
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] 		0000278
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
Spondylolisthesis
Displacement of one backbone compared to another
Slipped backbone
[ more ] 		0003302
1%-4% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Hypertropia 0025586
Percent of people who have these symptoms is not available through HPO
Aortic dissection
Tear in inner wall of large artery that carries blood away from heart
0002647
Aortic regurgitation 0001659
Aortic root aneurysm
Bulge in wall of root of large artery that carries blood away from heart
0002616
Autosomal dominant inheritance 0000006
Decreased muscle mass 0003199
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ] 		0000490
Ectopia lentis 0001083
Flexion contracture
Flexed joint that cannot be straightened
0001371
Genu recurvatum
Back knee
Knee hyperextension
[ more ] 		0002816
Hammertoe
Hammer toe
Hammertoes
[ more ] 		0001765
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Incisional hernia 0004872
Kyphoscoliosis 0002751
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] 		0000276
Malar flattening
Zygomatic flattening
0000272
Medial rotation of the medial malleolus 0008132
Mitral annular calcification 0005136
Mitral regurgitation 0001653
Narrow palate
Narrow roof of mouth
0000189
Pes cavus
High-arched foot
0001761
Pneumothorax
Collapsed lung
0002107
Premature osteoarthritis
Premature arthritis
0003088
Reduced subcutaneous adipose tissue
Reduced fat tissue below the skin
0003758
Tall stature
Increased body height
0000098
Tricuspid valve prolapse 0001704
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Last updated: 7/1/2020
Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit two copies of each gene. In autosomal dominant conditions, an individual has a disease-causing mutation in only one copy of the gene that causes the person to have the disease. The mutation can be inherited from a parent, or can happen by chance for the first time in an individual.[5]

Each child of an individual with Marfan syndrome has a 50% chance of inheriting the mutation and the disorder. Offspring who inherit the mutation will have Marfan syndrome, although they could be more or less severely affected than their parent.[5]

At least 25 percent of Marfan syndrome cases result from a new (de novo) mutation in the FBN1 gene. These cases occur in people with no family history of the disorder.[1]
Last updated: 1/26/2017

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.  
  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • The The Marfan Foundation has a Directory of Medical Institutions which is comprised of institutions throughout the United States that treat Marfan syndrome and related conditions.

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include MASS syndrome, Shprintzen-Goldberg syndrome, mitral valve prolapse, Ehlers-Danlos syndrome and other diseases that present with aortic aneurysm such as Loeys-Dietz syndrome (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Marfan syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Education Resources

  • The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Community Resources

  • The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Marfan syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • A Positive Exposure program called FRAME has an educational film about Marfan syndrome that was created to change how medical information is presented to healthcare professionals. FRAME stands for Faces Redefining the Art of Medical Education. Positive Exposure is an organization that uses photography, film, and narrative to transform public perceptions of people living with genetic, physical, intellectual, and behavioral differences.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Marfan syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Marfan Syndrome. Genetics Home Reference (GHR). March 2012; http://ghr.nlm.nih.gov/condition/marfan-syndrome.
  2. Chen MA, Zieve D. Marfan syndrome. MedlinePlus. May 13, 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000418.htm.
  3. What Are the Signs and Symptoms of Marfan Syndrome?. National Heart Lung and Blood Institute. 2010; http://www.nhlbi.nih.gov/health/health-topics/topics/mar/signs.html. Accessed 10/15/2013.
  4. Questions and Answers about Marfan Syndrome. National Institute of Arthritis and Musculoskeletal and Skin Diseases. October, 2015; https://www.niams.nih.gov/health_info/marfan_syndrome/.
  5. Dietz HC. Marfan syndrome. GeneReviews. June 12, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1335/.