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Start free with EleplanVascular Ehlers-Danlos syndrome
ORPHA:286Disease
Also called Arterial-ecchymotic EDS · EDS IV · Ehlers-Danlos syndrome type 4 · Sack-Barabas syndrome · Vascular EDS · vEDS
What it is
A rare genetic connective tissue disorder typically characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.
Key facts
- Prevalence
- 1-9 / 100 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive
- 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
Common30–79%
14- Arteriovenous fistula
- Bruising susceptibilityDiagnostic criterion
- Colon perforationDiagnostic criterion
- Dermal translucency
- Internal hemorrhage
- Joint hypermobilityDiagnostic criterion
- Mitral valve prolapse
- Premature birth
- Prematurely aged appearance
- Proptosis
- Talipes equinovarusDiagnostic criterion
- Thin skinDiagnostic criterion
- Thin vermilion border
- Varicose veinsDiagnostic criterion
Sometimes5–29%
30- Alopecia
- Aortic aneurysm
- Aortic dissectionDiagnostic criterion
- Arterial dissectionDiagnostic criterion
- Ascending tubular aorta aneurysm
- Carotid cavernous fistulaDiagnostic criterion
- Cigarette-paper scars
- Congenital hip dislocationDiagnostic criterion
and 22 more in this range
Rare1–4%
3- Amniotic constriction ring
- KeratoconusDiagnostic criterion
- Uterine ruptureDiagnostic criterion
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.
Gene
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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