capillary malformation-arteriovenous malformation syndrome
MeSH: C564254ORPHA: 137667
Overview
This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with capillary malformation-arteriovenous malformation syndrome, sourced from HPO and Orphanet clinical annotations.
Capillary malformationVascular skin abnormalityEpistaxisLymphedemaTelangiectasiaHigh-output congestive heart failureAbnormal bleedingCerebral arteriovenous malformationCerebral ischemiaArteriovenous fistulaAbnormality of the musculature of the limbsMaculeVein of Galen aneurysmal malformationArteriovenous malformationAbnormality of the lymphatic systemPeripheral arteriovenous fistulaNeurogenic bladderHydrocephalusFacial capillary hemangiomaHemangiomaSeizureAbnormal heart morphologyCongestive heart failureNonimmune hydrops fetalisMigraineHeadacheFunctional motor deficitChylothoraxHypopigmented macule
Classification & Codes
MeSH Code
C564254Orphanet Code
ORPHA:137667capillary malformation-arteriovenous malformation syndrome
| MeSH | C564254 |
| Orphanet | ORPHA:137667 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO