Ehlers-Danlos syndrome, cardiac valvular type
MeSH: C536200ORPHA: 230851
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with Ehlers-Danlos syndrome, cardiac valvular type, sourced from HPO and Orphanet clinical annotations.
Hyperextensible skinJoint hypermobilityMitral regurgitationAbnormal heart valve morphologyInguinal herniaStrabismusPtosisMyopiaDental crowdingPectus excavatumThin skinBruising susceptibilitySoft, doughy skinPoor wound healingAtrophic scarsJoint dislocationAortic regurgitationPes planusHallux valgusAortic root aneurysmGenu recurvatumGenu valgumTricuspid regurgitationAbsent phalangeal creaseHypermobility of distal interphalangeal jointsLong fingersHigh palateBulbous noseThick eyebrowSeizureGlobal developmental delayDisproportionate tall statureAtrial septal defectMitral valve prolapseLeft ventricular hypertrophyCalcaneovalgus deformitySandal gapDyspneaModerate intellectual disabilityKyphoscoliosisThoracolumbar scoliosisShort staturePulmonic regurgitationFatigueSevere conductive hearing impairmentRecurrent shoulder dislocationTendon thickeningTendon ruptureMyopic astigmatism
Classification & Codes
MeSH Code
C536200Orphanet Code
ORPHA:230851Ehlers-Danlos syndrome, cardiac valvular type
| MeSH | C536200 |
| Orphanet | ORPHA:230851 |
| Treatments | 0 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO