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Start free with EleplanCardiac-valvular Ehlers-Danlos syndrome
ORPHA:230851Disease
Also called Cardiac-valvular EDS · cvEDS
What it is
A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- 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
Very common80–99%
4- Abnormal heart valve morphology
- Hyperextensible skinDiagnostic criterion
- Joint hypermobilityDiagnostic criterion
- Mitral regurgitationDiagnostic criterion
Common30–79%
22- Absent phalangeal crease
- Aortic regurgitationDiagnostic criterion
- Aortic root aneurysm
- Atrophic scarsDiagnostic criterion
- Bruising susceptibilityDiagnostic criterion
- Dental crowding
- Genu recurvatum
- Genu valgum
- Hallux valgusDiagnostic criterion
- Hypermobility of distal interphalangeal joints
- Inguinal herniaDiagnostic criterion
- Joint dislocationDiagnostic criterion
- Long fingers
- Myopia
- Pectus excavatumDiagnostic criterion
- Pes planusDiagnostic criterion
- Poor wound healing
- Ptosis
- Soft, doughy skin
- Strabismus
- Thin skinDiagnostic criterion
- Tricuspid regurgitationDiagnostic criterion
Sometimes5–29%
23- Atrial septal defect
- Bulbous nose
- Calcaneovalgus deformity
- Disproportionate tall stature
- Dyspnea
- Fatigue
- Global developmental delay
- High palate
and 15 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.
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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