ORPHA:107
BOR syndrome
Also known as: Branchiootorenal spectrum disorder · Branchiootorenal syndrome · Melnick-Fraser syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,197
91.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,087
Distinct authors in sample
Gene link
EYA1, SIX1, SIX5
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare otomandibular syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree , renal hypoplasia or agenesis, renal , renal cysts).
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007029
- MeSH:D019280
- UMLS:C0265234
- NCIT:C98983
Additional Mondo synonyms (3)
Branchio-Oto-renal syndrome · branchio-oto-renal syndrome · branchiootorenal 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
Definitive — EYA1, SIX1, SIX5
- LiteraturePresent
1,197 matched papers (589 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 (EYA1, SIX1, SIX5).
GenCC classification: Definitive.
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?
1,197
1,197 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,197 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).
589 in the last 10 years · medium confidence · 91.1th percentile (publications denominator)
Phrase hits: 1,197 · MeSH hits: 0
Who's working on it?
1,087
Distinct author names in 200 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.
- 01Moody SA10 papers · 2026
Department of Anatomy and Cell Biology, The George Washington University School of Medicine and Health Sciences, 2300 I (eye) Street, NW, Washington, DC, 20037, USA. Electronic address: samoody@gwu.edu.
Papers in Europe PMC - 02Tavares ALP7 papers · 2026
Department of Anatomy and Cell Biology, The George Washington University School of Medicine and Health Sciences, 2300 I (eye) Street, NW, Washington, DC, 20037, USA.
Papers in Europe PMC - 03Jourdeuil K5 papers · 2026
Department of Anatomy and Cell Biology, The George Washington University School of Medicine and Health Sciences, 2300 I (eye) Street, NW, Washington, DC, 20037, USA.
Papers in Europe PMC - 04Li G5 papers · 2025
Chigene (Beijing) Translational Medical Research Center Co., Ltd, Beijing, China.
Papers in Europe PMC - 05Zhang H5 papers · 2026
Department of Oncology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
Papers in Europe PMC - 06Clement E4 papers · 2025
Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, United Kingdom.
Papers in Europe PMC - 07D'Arco F4 papers · 2025
Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1 N 3 JH, United Kingdom.
Papers in Europe PMC - 08Iijima K4 papers · 2025
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Papers in Europe PMC - 09Juliano AF4 papers · 2026
Department of Radiology (A.F.J.), Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts amy_juliano@meei.harvard.edu.
Papers in Europe PMC - 10Li J4 papers · 2023
Department of Otorhinolaryngology，Wuhan Children's Hospital，Tongji Medical College，Huazhong University of Science and Technology，Wuhan，430016，China.
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.
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.
"BOR syndrome" OR "Branchiootorenal spectrum disorder" OR "Branchiootorenal syndrome" OR "Melnick-Fraser syndrome" OR "Branchio-Oto-renal syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"BOR syndrome" OR "Branchiootorenal spectrum disorder" OR "Branchiootorenal syndrome" OR "Melnick-Fraser syndrome" OR "Branchio-Oto-renal syndrome" OR "EYA1" OR "SIX1" OR "SIX5"
Recall-expansion terms: EYA1, SIX1, SIX5
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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T12:26:39.296Z