Fibro-adipose vascular anomaly
Synonyms: FAVA · Fibro-fatty vascular anomaly · Fibroadipose vascular anomaly
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare vascular malformation characterized by fibro-adipose and venous tissue with diffuse muscle infiltration and extension along fascial planes, most often affecting the calf and forearm. Major clinical features include severe and persistent pain, phlebectasia, contractures, joint deformity as well as muscle atrophy. The skin is usually unremarkable.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fibro-adipose vascular anomaly | FAVA · Fibro-fatty vascular anomaly · Fibroadipose vascular anomaly |
| fr | Anomalie vasculaire fibro-adipeuse | FAVA |
| de | Fibro-adipöse vaskuläre Anomalie | FAVA |
| es | Anomalía vascular fibroadiposa | AVFA · FAVA |
| it | Anomalia vascolare fibro-adiposa | FAVA · Anomalia vascolare fibro-adiposa · Anomalia vascolare fibroadiposa |
| nl | Fibroadipeuze vasculaire anomalie | FAVA |
| pt | Fibro-adipose vascular anomaly | |
| pl | Fibro-adipose vascular anomaly | = en |
| cs | Fibro-adipose vascular anomaly | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:715334Unifocal peripheral venous malformation
rare developmental anomalies during embryogenesis; rare circulatory system 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 | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/699683
- This record as JSON: /data/d/699683.json