Rare diseases · Sign or symptom
Arteriovenous malformation
HP:0100026
What it means
An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this24
Very common80–99%
12- Arterial dissection-lentiginosis syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Blue rubber bleb nevus syndrome
- Cutis marmorata telangiectatica congenita
- Familial multiple nevi flammei
- Glomuvenous malformation
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Parkes Weber syndrome
- Phakomatosis pigmentovascularis
- Proteus syndrome
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
- Spinal arteriovenous metameric syndrome
Common30–79%
4Sometimes5–29%
7The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.