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Start free with EleplanMarfan syndrome
ORPHA:558Disease
Also called MFS
What it is
Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.
Key facts
- Prevalence
- 1-5 / 10 000 (Europe)
- Age of onset
- All ages
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
10- Aortic aneurysmDiagnostic criterion
- Aortic root aneurysmDiagnostic criterion
- ArachnodactylyDiagnostic criterion
- Chronic fatigue
- Disproportionate tall statureDiagnostic criterion
- Pectus carinatumDiagnostic criterion
- Pes planusDiagnostic criterion
- Slender build
- Spontaneous pneumothoraxDiagnostic criterion
- Striae distensaeDiagnostic criterion
Common30–79%
24- Abnormal zygomatic bone morphology
- Aortic dissectionDiagnostic criterion
- Aortic regurgitation
- Arthralgia/arthritis
- Ascending tubular aorta aneurysm
- Dental crowdingDiagnostic criterion
- Dural ectasiaDiagnostic criterion
- Ectopia lentisDiagnostic criterion
- High, narrow palateDiagnostic criterion
- Increased axial length of the globeDiagnostic criterion
- Joint hypermobilityDiagnostic criterion
- Lens luxation
- Lens subluxation
- Mitral regurgitation
- Mitral valve prolapseDiagnostic criterion
- MyopiaDiagnostic criterion
- Narrow face
- Pectus excavatumDiagnostic criterion
- Protrusio acetabuliDiagnostic criterion
- ScoliosisDiagnostic criterion
- Sleep abnormality
- Sleep apnea
- Tricuspid valve prolapse
- Visual impairment
Sometimes5–29%
34- Abnormal left ventricular function
- Aortic tortuosity
- Arterial dissectionDiagnostic criterion
- Attention deficit hyperactivity disorder
- Cachexia
- Cleft palate
- Congestive heart failure
- Dilatation of an abdominal arteryDiagnostic criterion
and 26 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes reported in subtypes
Orphanet records these genes on 2 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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