Cobb syndrome
Findings
No curated finding names Cobb syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution.
Definition from the Mondo Disease Ontology (MONDO:0018893), read 2026-09-29. CC BY 4.0.
Features
20 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.
- Abnormal spinal cord morphologyHPOHP:0002143
- Very frequent (80% to 99% of cases)
- Abnormality of the vertebral columnHPOHP:0000925
- Very frequent (80% to 99% of cases)
- Arteriovenous malformationHPOHP:0100026
- Very frequent (80% to 99% of cases)
- ArthralgiaHPOHP:0002829
- Very frequent (80% to 99% of cases)
- Bone painHPOHP:0002653
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- Nevus flammeus
Show the remaining 8
- Cutaneous angiolipomasHPOHP:0006773
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- Abnormality of the kidneyHPOHP:0000077
- Occasional (5% to 29% of cases)
- AngiokeratomaHPOHP:0001014
- Occasional (5% to 29% of cases)
- Congestive heart failureHPOHP:0001635
- Occasional (5% to 29% of cases)
- GangreneHPOHP:0100758
- Occasional (5% to 29% of cases)
Where it sits
Other names
4 names
Resolves to: Cobb syndrome
- Also called
- Cobb's syndromecutaneomeningospinal angiomatosisSAMS 1-31spinal arteriovenous metameric syndrome