Segmental venous malformation
Synonyms: Bockenheimer syndrome · Extensive venous malformation · Genuine diffuse phlebectasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood, Neonatal
- Status
- active
A rare vascular anomaly characterized by congenital, progressive, circumscribed venous malformations (phlebectasias) primarily involving the upper and/or lower extremities, either on one side or bilaterally. The malformed vessels are visible beneath the skin. Veins of all sizes are affected. Pain, swelling, muscle wasting, and ulceration may occur.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Segmental venous malformation | Bockenheimer syndrome · Extensive venous malformation · Genuine diffuse phlebectasia |
| fr | Malformation veineuse segmentaire | Syndrome de Bockenheimer |
| de | Segmentale Fehlbildung der Venen | Bockenheimer-Syndrom · Extensive venöse Malformation · Phlebektasie, diffuse genuine |
| es | Malformación venosa segmentaria | Flebectasia difusa genuina · Malformación venosa extensa · Síndrome de Bockenheimer |
| it | Malformazione venosa segmentale | Malformazione venosa estesa · Flebectasia diffusa pura · Sindrome di Bockenheimer |
| nl | Segmentale veneuze malformatie | Uitgebreide veneuze malformatie · Authentieke diffuse flebectasie · Syndroom van Bockenheimer |
| pt | Malformação venosa segmentar | Síndrome Bockenheimer · Malformação venosa extensa · Flebectasia difusa genuína |
| pl | Odcinkowa malformacja żylna | Prawdziwe rozlane rozszerzenie żył |
| cs | Bockenheimerův syndrom | Difuzní flebektazie |
| uk | Синдром Бокенгаймера | Справжня дифузна флебектазія |
| zh | Bockenheimer综合征 | 真性弥漫性静脉曲张 |
| tr | Bockenheimer sendromu | Gerçek yaygın flebektazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q27.4 | NTBT | attributed | validated |
| ICD-11 | LC51 | NTBT | index | validated |
| MONDO | 0016311 | E | validated | |
| UMLS | C5679814 | E | validated | |
| GARD | 13063 | 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:79379Skin vascular disease
rare skin diseases - ORPHA:715334Unifocal peripheral venous malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:75508Angioosteohypotrophic syndrome moved to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | ISBN-13: 978-0323073677[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_ISBN-13: 978-0323073677[OTHER] |
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
21 annotations · validated 2025-10-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040064 | Abnormality of limbs | |
| HP:0006496 | Aplasia/hypoplasia involving bones of the upper limbs | |
| HP:0100555 | Asymmetric growth | |
| HP:0025104 | Capillary malformation | |
| HP:0001528 | Hemihypertrophy | |
| HP:0001015 | Prominent superficial veins | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0012721 | Venous malformation | |
| Frequent (79-30%) | ||
| HP:0011804 | Abnormal muscle physiology | |
| HP:0100671 | Abnormal trabecular bone morphology | |
| HP:0000969 | Edema | |
| HP:0010484 | Hypertrophy of the upper limb | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0005792 | Short humerus | |
| HP:0002753 | Thin bony cortex | |
| HP:0004936 | Venous thrombosis | |
| Occasional (29-5%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0001155 | Abnormality of the hand | |
| HP:0003401 | Paresthesia | |
| HP:0009824 | Upper limb undergrowth | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 30482106[PMID]_33912256[PM
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217008
- This record as JSON: /data/d/217008.json