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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.
Features include very common findings: Sensory neuropathy, Abnormality of the vertebral column, Nevus flammeus, and Overactive reflexes (hyperreflexia) and others; and common findings: Cutaneous angiolipomas and Fatigue. 20 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 4 | Abnormality of the vertebral column, Bone pain, Kyphoscoliosis |
Biomarker and diagnostic research for Cobb syndrome has been reported in the published literature.
Phenotype severity distribution: 12 very common features, 2 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Cobb syndrome.
10 publications have been identified in PubMed for Cobb syndrome. Research spans Case Report / Case Series (60%), Diagnostic / Biomarker (10%), and Review / Meta-Analysis (10%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 60% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 5:35 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Cobb syndrome
Brain and nerves |
3 |
Sensory neuropathy, Overactive reflexes (hyperreflexia), Fatigue |
Kidneys and urinary system | 2 | Abnormality of the kidney, Urinary bladder sphincter dysfunction |
Skin | 1 | Angiokeratoma |
Heart and blood vessels | 1 | Congestive heart failure |
1 |
10% |
Research summaries | 1 | 10% |
Disease patterns and progression | 1 | 10% |
New treatment approaches | 1 | 10% |
Palermo M (2026). [PMID: 41704211](https://pubmed.ncbi.nlm.nih.gov/41704211/). *European journal of neurology*. [Case Report / Case Series]
Varma N (2025). [PMID: 40636639](https://pubmed.ncbi.nlm.nih.gov/40636639/). *Cureus*. [Case Report / Case Series]
Ying YZ (2025). [PMID: 40550210](https://pubmed.ncbi.nlm.nih.gov/40550210/). *Journal of neurosurgery. Case lessons*. [Case Report / Case Series]
Bhatia KD (2025). [PMID: 41350447](https://pubmed.ncbi.nlm.nih.gov/41350447/). *Communications medicine*. [Diagnostic / Biomarker]
Gougeon A (2025). [PMID: 39488449](https://pubmed.ncbi.nlm.nih.gov/39488449/). *Atherosclerosis*. [Review / Meta-Analysis]
Riveros-Ruiz J (2025). [PMID: 40585938](https://pubmed.ncbi.nlm.nih.gov/40585938/). *Journal of surgical case reports*. [Case Report / Case Series]
Netzer S (2025). [PMID: 41156016](https://pubmed.ncbi.nlm.nih.gov/41156016/). *Journal of clinical medicine*. [Epidemiology / Natural History]
Kumawat BL (2025). [PMID: 40840962](https://pubmed.ncbi.nlm.nih.gov/40840962/). *BMJ case reports*. [Case Report / Case Series]
Mulchan N (2024). [PMID: 38766554](https://pubmed.ncbi.nlm.nih.gov/38766554/). *Child neurology open*. [Case Report / Case Series]
Sun Y (2024). [PMID: 39153202](https://pubmed.ncbi.nlm.nih.gov/39153202/). *Annals of clinical and translational neurology*. [Gene Therapy / Novel Therapeutics]