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ORPHA:107

BOR syndrome

medium confidenceDisorder

Also known as: Branchiootorenal spectrum disorder · Branchiootorenal syndrome · Melnick-Fraser syndrome

Publications

8,030

94.7th percentile

Trials

0

Interventional, condition-specific

Researchers

1,114

Distinct authors in sample

Gene link

EYA1, SIX1, SIX5

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — EYA1, SIX1, SIX5

  2. LiteraturePresent

    8,030 matched papers (5,185 in last 10 years) Source

  3. Phenotype characterisedPresent

    82 HPO annotations (e.g. Abnormal renal collecting system morphology; High palate; Cupped ear) Source

  4. Animal modelPresent

    5 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

82

Associated phenotypes · MONDO:0007029

  • Abnormal renal collecting system morphology
  • High palate
  • Cupped ear
  • Cleft palate
  • Bifid uvula

Showing 5 of 82 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

8,030

8,030 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

8,030 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

5,185 in the last 10 years · medium confidence · 94.7th percentile (publications denominator)

Phrase hits: 1,197 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,114

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.

  1. 01
    Moody SA16 papers · 2026

    Department of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington DC, DC 20037, USA.

    Papers in Europe PMC
  2. 02
    Tavares ALP10 papers · 2026

    Department of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington DC, DC 20037, USA.

    Papers in Europe PMC
  3. 03
    Jourdeuil K8 papers · 2026

    Department of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington DC, DC 20037, USA.

    Papers in Europe PMC
  4. 04
    Li J7 papers · 2023

    Department of Genetics and Genomic Sciences, New York, NY 10029, USA.

    Papers in Europe PMC
  5. 05
    Majumdar HD7 papers · 2026

    Department of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington DC, DC 20037, USA.

    Papers in Europe PMC
  6. 06
    Neilson KM6 papers · 2025

    Department of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington DC, DC 20037, USA.

    Papers in Europe PMC
  7. 07
    Wang Y6 papers · 2026

    Department of Gynecology and Obstetrics, Inner Mongolia Medical University Affiliated Hospital, Hohhot, China.

    Papers in Europe PMC
  8. 08
    Li G5 papers · 2025

    Chigene (Beijing) Translational Medical Research Center Co., Ltd, Beijing, China.

    Papers in Europe PMC
  9. 09
    Li H5 papers · 2026

    State Key Laboratory of North China Crop Improvement and Regulation, Key Laboratory of Vegetable Germplasm Innovation and Utilization of Hebei, College of Horticulture, Hebei Agricultural University, Baoding 07100, China.

    Papers in Europe PMC
  10. 10
    Liu Z5 papers · 2026

    State Key Laboratory of Organ Failure Research, Department of Developmental Biology, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 8 · after dedupe 8 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 8 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (8)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for BOR syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("EYA1" OR "EYA1 syndrome" OR "EYA1-related" OR "SIX1" OR "SIX1 syndrome" OR "SIX1-related" OR "SIX5" OR "SIX5 syndrome" OR "SIX5-related")

Run this search on Europe PMC

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"

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 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