Cerebrofacial arteriovenous metameric syndrome
Synonyms: CAMS
- Type
- Malformation syndrome
- Group
- Disorder
- Status
- active
A rare, nonhereditary, complex cerebrofacial vascular malformation characterized by multiple ipsilateral arteriovenous malformations (AVMs) with a metameric distribution, affecting various territories of the face with corresponding areas of the brain. The spectrum is highly variable with three types described according to lesion distribution: CAMS 1 derives from the medial prosencephalon with concurrent involvement of hypothalamus, nose, forehead; CAMS 2 arises from the lateral prosencephalon and involves basal ganglia, optic nerve and retina and maxillo-facial region; CAMS 3 derives from the rhombencephalon and involves cerebellum and mandible.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerebrofacial arteriovenous metameric syndrome | CAMS |
| fr | Syndrome métamérique artérioveineux cérébro-facial | = en |
| de | Zerebrofaziales arteriovenöses metameres Syndrom | |
| es | Síndrome arteriovenoso cerebrofacial metamérico | = en |
| it | Sindrome metamerica arterovenosa cerebrofacciale | |
| nl | Cerebrofaciaal arterioveneus metamerisch syndroom | = en |
| pt | Síndrome metamérico arteriovenoso cerebrofacial | |
| pl | Zespół tętniczo-żylnej metamerii mózgowo-twarzowej | = en |
| cs | Cerebrofaciální arteriovenózní metamerické syndromy | = en |
| uk | Цереброфаціальний артеріовенозний метамерний синдром | = en |
| zh | 大脑面部动静脉畸形综合征 | = en |
| tr | Serebrofasiyal arteriyovenöz metamerik sendrom | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q28.2 | NTBT | attributed | validated |
| ICD-11 | LA90.3Y | NTBT | index | validated |
| MONDO | 0015405 | E | validated | |
| UMLS | C3839265 | 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 (1):
- ORPHA:715757Metameric fast-flow vascular malformation
rare developmental anomalies during embryogenesis; rare neurological diseases; rare circulatory system diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:53719OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2 referred to · inactive
- ORPHA:141194OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 1 referred to · inactive
- ORPHA:141199OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3 referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/141189
- This record as JSON: /data/d/141189.json