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Disease Profile

Marfan syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

All ages

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ICD-10

Q87.4

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Contractural arachnodactyly

Categories

Congenital and Genetic Diseases; Connective tissue diseases; Eye diseases

Summary

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]

Symptoms

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).

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.

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
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 ]

Treatment

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.

    Organizations

    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

      Social Networking Websites

        Learn more

        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

        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • Genetics Home Reference (GHR) contains information on Marfan syndrome. This website is maintained by the National Library of Medicine.
        • 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.

            References

            1. Marfan Syndrome. Genetics Home Reference (GHR). March 2012; https://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; https://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; https://www.ncbi.nlm.nih.gov/books/NBK1335/.

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