capillary malformation-arteriovenous malformation syndrome
MONDO:0012016Mondo
Findings
No curated finding names capillary malformation-arteriovenous malformation syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.
Definition from the Mondo Disease Ontology (MONDO:0012016), read 2026-09-29. CC BY 4.0.
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Capillary malformationHPOHP:0025104
- Very frequent (80% to 99% of cases)
- Vascular skin abnormalityHPOHP:0011276
- Frequent (30% to 79% of cases)
- Abnormal appendicular muscle morphologyHPOHP:0009127
- Occasional (5% to 29% of cases)
- Abnormal bleedingHPOHP:0001892
- Occasional (5% to 29% of cases)
- Abnormality of the lymphatic systemHPOHP:0100763
- Occasional (5% to 29% of cases)
- Arteriovenous fistulaHPOHP:0004947
- Occasional (5% to 29% of cases)
- Arteriovenous malformationHPOHP:0100026
- Occasional (5% to 29% of cases)
- Cerebral arteriovenous malformationHPOHP:0002408
- Occasional (5% to 29% of cases)
- Cerebral ischemiaHPOHP:0002637
- Occasional (5% to 29% of cases)
- EpistaxisHPOHP:0000421
- Occasional (5% to 29% of cases)
- High-output congestive heart failureHPOHP:0001722
- Occasional (5% to 29% of cases)
- LymphedemaHPOHP:0001004
- Occasional (5% to 29% of cases)
Show the remaining 17
- MaculeHPOHP:0012733
- Occasional (5% to 29% of cases)
- Peripheral arteriovenous fistulaHPOHP:0100784
- Occasional (5% to 29% of cases)
- TelangiectasiaHPOHP:0001009
- Occasional (5% to 29% of cases)
- Vein of Galen aneurysmal malformationHPOHP:0030713
- Occasional (5% to 29% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Very rare (1% to 4% of cases)
- ChylothoraxHPOHP:0010310
- Very rare (1% to 4% of cases)
Where it sits
Other names
1 name
Resolves to: capillary malformation-arteriovenous malformation syndrome
- Also called
- CM-AVM