ORPHA:217266
BNAR syndrome
Also known as: Bifid nose with or without anorectal and renal anomalies
Publications
36
40th percentile
Trials
0
Interventional, condition-specific
Researchers
343
Distinct authors in sample
Gene link
FREM1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
BNAR syndrome is a very rare multiple anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal (unilateral or bilateral renal agenesis) and without . BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.
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:0012165
- MeSH:C567672
- OMIM:608980
- UMLS:C2750433
Additional Mondo synonyms (1)
bifid nose with or without anorectal and renal anomalies
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 — FREM1
- LiteraturePresent
36 matched papers (24 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 (FREM1).
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?
36
36 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.
36 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).
24 in the last 10 years · medium confidence · 40th percentile (publications denominator)
Phrase hits: 36 · MeSH hits: 1
Who's working on it?
343
Distinct author names in 36 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.
- 01Liu Y4 papers · 2026
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 02Beck TF3 papers · 2015
Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Papers in Europe PMC - 03Schanze D3 papers · 2021
Institute of Human Genetics, University Hospital Magdeburg Leipziger Str. 44 39120 Magdeburg Germany.
Papers in Europe PMC - 04Scott DA3 papers · 2015Papers in Europe PMC
- 05Tasic V3 papers · 2025
Department of Pediatric Nephrology, University Children's Hospital, Skopje, Macedonia; and.
Papers in Europe PMC - 06Zenker M3 papers · 2021
Institute of Human Genetics, University Hospital Magdeburg Leipziger Str. 44 39120 Magdeburg Germany.
Papers in Europe PMC - 07Cox TC2 papers · 2011Papers in Europe PMC
- 08Feingold E2 papers · 2018
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, 15261, USA.
Papers in Europe PMC - 09Hildebrandt F2 papers · 2018
Divison of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts Friedhelm.Hildebrandt@childrens.harvard.edu.
Papers in Europe PMC - 10Justice MJ2 papers · 2013Papers 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.
medium 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.
"BNAR syndrome" OR "Bifid nose with or without anorectal and renal anomalies"
MeSH descriptor terms unioned into the query: Bifid Nose With Or Without Anorectal And Renal Anomalies
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"BNAR syndrome" OR "Bifid nose with or without anorectal and renal anomalies" OR "FREM1"
Recall-expansion terms: FREM1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T09:46:27.363Z