ORPHA:1270
Bowen-Conradi syndrome
Also known as: Bowen syndrome, Hutterite type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
107
53.6th percentile
Trials
0
Interventional, condition-specific
Researchers
500
Distinct authors in sample
Gene link
EMG1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare developmental defect during embryogenesis characterized by moderate to severe and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet.
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:0008879
- MeSH:C537081
- OMIM:211180
- UMLS:C1859405
Additional Mondo synonyms (5)
BWCNS · Bowen Hutterite Syndrome · Bowen Hutterite syndrome (formerly) · Bowen Hutterite syndrome, formerly · Bowen-Conradi Hutterite syndrome
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — EMG1
- LiteraturePresent
107 matched papers (51 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?
Yes — we know a specific gene responsible (EMG1).
GenCC classification: Strong.
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?
107
107 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.
107 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).
51 in the last 10 years · high confidence · 53.6th percentile (publications denominator)
Phrase hits: 107 · MeSH hits: 0
Who's working on it?
500
Distinct author names in 107 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.
- 01Bohnsack MT11 papers · 2019
Centre for Biochemistry and Molecular Cell Biology, Georg-August University, 37073 Göttingen, Germany
Papers in Europe PMC - 02Entian KD7 papers · 2022
c Institute for Molecular Biosciences, Goethe University , Frankfurt am Main , Germany.
Papers in Europe PMC - 03Baserga SJ6 papers · 2021
Departments of Genetics, Molecular Biophysics and Biochemistry, and Therapeutic Radiology, Yale University School of Medicine, New Haven, CT, 06520, USA.
Papers in Europe PMC - 04Lowry RB5 papers · 2005
Department of Medical Genetics, Alberta Children's Hospital and the University of Calgary, Canada. brian.lowry@calgaryhealthregion.ca
Papers in Europe PMC - 05Triggs-Raine B5 papers · 2016
Departments of Biochemistry & Medical GeneticsUniversity of ManitobaWinnipegCanada; Pediatrics & Child HealthUniversity of Manitoba745 Bannatyne Ave.WinnipegMB R3E 0J9Canada; The Manitoba Institute of Child Health513-715 McDermot Ave.WinnipegMB R3E 3P4Canada.
Papers in Europe PMC - 06Greenberg CR4 papers · 2016
Departments of Biochemistry & Medical GeneticsUniversity of ManitobaWinnipegCanada; Pediatrics & Child HealthUniversity of Manitoba745 Bannatyne Ave.WinnipegMB R3E 0J9Canada; The Manitoba Institute of Child Health513-715 McDermot Ave.WinnipegMB R3E 3P4Canada.
Papers in Europe PMC - 07Innes AM4 papers · 2016
Department of Medical Genetics Alberta Children's Hospital and Alberta Children's Hospital Research Institute for Child and Maternal Health Cumming School of Medicine University of Calgary Calgary Alberta Canada.
Papers in Europe PMC - 08Kötter P4 papers · 2012Papers in Europe PMC
- 09Meyer B4 papers · 2011
Cluster of Excellence Frankfurt: Macromolecular Complexes, Max-von-Laue Str. 9, D-60438 Frankfurt/M., Germany.
Papers in Europe PMC - 10Patel N4 papers · 2015
Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
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.
"Bowen-Conradi syndrome" OR "Bowen syndrome, Hutterite type" OR "BWCNS" OR "Bowen Hutterite Syndrome" OR "Bowen Hutterite syndrome (formerly)" OR "Bowen Hutterite syndrome, formerly" OR "Bowen-Conradi Hutterite syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Bowen-Conradi syndrome" OR "Bowen syndrome, Hutterite type" OR "BWCNS" OR "Bowen Hutterite Syndrome" OR "Bowen Hutterite syndrome (formerly)" OR "Bowen Hutterite syndrome, formerly" OR "Bowen-Conradi Hutterite syndrome" OR "EMG1"
Recall-expansion terms: EMG1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-26T16:53:25.264Z