Spinal arteriovenous metameric syndrome
Synonyms: Cobb syndrome · Cutaneomeningospinal angiomatosis · SAMS 1-31
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinal arteriovenous metameric syndrome | Cobb syndrome · Cutaneomeningospinal angiomatosis · SAMS 1-31 |
| fr | Syndrome métamérique artérioveineux spinal | Angiomatose cutanéoméningospinale · SAMS 1-31 · Syndrome de Cobb |
| de | Spinales arteriovenöses metameres Syndrom | Angiomatose, kutaneomeningospinale · Cobb-Syndrom · SAMS 1-31 |
| es | Síndrome arteriovenoso metamérico espinal | Angiomatosis cutáneo-meningo-espinal · SAMS 1-31 · Síndrome de Cobb |
| it | Sindrome di Cobb | |
| nl | Spinaal arterioveneus metamerisch syndroom | Cutaneomeningospinale angiomatose · SAMS 1-31 · Syndroom van Cobb |
| pt | Síndrome arteriovenoso metamérico espinhal | Angiomatose cutaneo-meningo-espinhal · Síndrome Cobb |
| pl | Zespół rdzeniowy tętniczo-żylny metameryczny | Angiomatoza skórno-oponowo-rdzeniowa · SAMS 1-31 · Zespół rdzeniowy tętniczo-żylny metameryczny |
| cs | Cobbův syndrom | Kutaneomeningospinální angiomatóza · SAMS 1-31 · Spinální arteriovenózní metamerický syndrom |
| uk | Спінальний артеріовенозний метамерний синдром | Синдром Кобба · Кутанеоменінгоспінальний ангіоматоз · SAMS 1-31 |
| zh | 脊髓动静脉节段综合征 | 皮肤脑脊膜血管瘤病 |
| tr | Spinal arteriyovenöz metamerik sendrom | SAMS 1-31 · Cobb sendromu · Kutanomeningospinal anjiyomatoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q27.3 | NTBT | attributed | validated |
| ICD-11 | LA90.3Y | NTBT | index | validated |
| MONDO | 0018893 | E | validated | |
| UMLS | C0346068 | E | validated | |
| GARD | 11892 | E | validated | |
| MedDRA | 10068841 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:715757Metameric fast-flow vascular malformation
rare developmental anomalies during embryogenesis; rare neurological diseases; rare circulatory system diseases - ORPHA:79379Skin vascular disease
rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 45 cases | Worldwide | Case(s) | Validated | 26130930[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26130930[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002143 | Abnormality of the spinal cord | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0100026 | Arteriovenous malformation | |
| HP:0002829 | Arthralgia | |
| HP:0002653 | Bone pain | |
| HP:0001347 | Hyperreflexia | |
| HP:0001052 | Nevus flammeus | |
| HP:0002385 | Paraparesis | |
| HP:0000763 | Sensory neuropathy | |
| HP:0002390 | Spinal arteriovenous malformation | |
| HP:0002839 | Urinary bladder sphincter dysfunction | |
| HP:0100761 | Visceral angiomatosis | |
| Frequent (79-30%) | ||
| HP:0006773 | Cutaneous angiolipomas | |
| HP:0012378 | Fatigue | |
| Occasional (29-5%) | ||
| HP:0000077 | Abnormality of the kidney | |
| HP:0001014 | Angiokeratoma | |
| HP:0001635 | Congestive heart failure | |
| HP:0100758 | Gangrene | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0100764 | Lymphangioma | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20805687[PMID]_21519966[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/53721
- This record as JSON: /data/d/53721.json