ORPHA:217008
Segmental venous malformation
Also known as: Bockenheimer syndrome · Extensive venous malformation · Genuine diffuse phlebectasia
Publications
59
42.4th percentile
Trials
0
Interventional, condition-specific
Researchers
234
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare vascular anomaly characterized by , , 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.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016311
- UMLS:C5679814
Additional Mondo synonyms (1)
genuine diffuse phlebectasia
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
59 matched papers (28 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
59
59 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
59 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
28 in the last 10 years · high confidence · 42.4th percentile (publications denominator)
Phrase hits: 59 · MeSH hits: 0
Who's working on it?
234
Distinct author names in 59 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Bhat V4 papers · 2016
Department of Radiology, Craniofacial Surgery Narayana Health, Multispeciality Hospital and Mazumdar Shaw Cancer Centre, Bangalore, Karnataka, India.
Papers in Europe PMC - 02Wildgruber M4 papers · 2026
Department of Radiology, University Hospital Ludwig-Maximilians-Universität, Campus Großhadern, 81377, Munich, Germany.
Papers in Europe PMC - 03Wohlgemuth WA4 papers · 2026
Department of Radiology and Policlinic of Radiology, University Hospital Halle (Saale), Ernst-Grube-Straße 40, 06120, Halle (Saale), Germany.
Papers in Europe PMC - 04Schmidt VF3 papers · 2026
Department of Radiology, University Hospital, LMU Munich, Munich, Germany.
Papers in Europe PMC - 05Boon LM2 papers · 2024
Center for Vascular Anomalies (a VASCERN VASCA European Reference Centre), Division of Plastic Surgery, Cliniques universitaires St Luc, University of Louvain, Brussels, Belgium.
Papers in Europe PMC - 06Brill R2 papers · 2021
Department of Radiology and Policlinic of Radiology, University Hospital Halle (Saale), Ernst-Grube-Straße 40, 06120, Halle (Saale), Germany.
Papers in Europe PMC - 07Kühnel T2 papers · 2026
Department of Otorhinolaryngology, Regensburg University Medical Center, 93053 Regensburg, Germany.
Papers in Europe PMC - 08Obereisenbuchner F2 papers · 2026
Department of Radiology, LMU University Hospital, LMU Munich, 81377 München, Germany.
Papers in Europe PMC - 09Platz Batista da Silva N2 papers · 2026
Institute of Radiology, Regensburg University Medical Center, 93053 Regensburg, Germany.
Papers in Europe PMC - 10Puhr-Westerheide D2 papers · 2026
Department of Radiology, LMU University Hospital, LMU Munich, 81377 München, Germany.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Segmental venous malformation" OR "Bockenheimer syndrome" OR "Extensive venous malformation" OR "Genuine diffuse phlebectasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Segmental venous malformation" OR "Bockenheimer syndrome" OR "Extensive venous malformation" OR "Genuine diffuse phlebectasia"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T09:43:43.895Z