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PubMed This is a summary of 14 peer-reviewed journal articles Updated
Pediatrics · Branchio-Oto-Renal Syndrome

The Path to Diagnosis: Criteria and Imaging

At a Glance

Doctors diagnose Branchio-Oto-Renal (BOR) syndrome by evaluating specific major and minor clinical criteria, such as hearing loss, neck cysts, ear pits, and kidney differences. A temporal bone CT scan showing an "unwound" cochlea is also a strong indicator used to confirm the condition.

Diagnosing Branchio-Oto-Renal (BOR) syndrome involves putting together a puzzle of physical signs, imaging results, and genetic data [1]. Because the syndrome varies so much from person to person, doctors use a specific set of clinical “rules” to determine if a child falls within the BOR spectrum [2].

Clinical Diagnostic Criteria

To be diagnosed with BOR syndrome, a child typically must meet a combination of major and minor criteria [1].

Major Criteria include:

  • Branchial Arch Anomalies: Small holes (fistulae) or lumps (cysts) on the side of the neck [3][4].
  • Hearing Loss: This may be conductive (mechanical), sensorineural (nerve-related), or mixed [2][5].
  • Preauricular Pits: Tiny, pin-sized holes located just in front of the ear [3].
  • Renal Anomalies: Structural differences in the kidneys, such as being smaller or missing [2][6].

Minor Criteria include:

  • External Ear Deformities: Such as unusually small or “cupped” ears [4].
  • Middle/Inner Ear Anomalies: Found on imaging like CT scans [7].
  • Preauricular Tags: Small skin growths in front of the ear.

Typically, a diagnosis is made if a child has three major criteria, or two major plus two minor criteria [1]. If a family member already has a confirmed diagnosis, the requirements for a second relative are usually less strict [2].

The “Unwound” Cochlea: A Key Clue

A temporal bone CT scan (a detailed imaging of the ear bones) is often the most important tool for a doctor [7][8]. In many children with BOR, the scan reveals a very specific shape of the cochlea (the snail-shaped organ used for hearing).

In a typical ear, the cochlea is tightly coiled. In many BOR cases—especially those caused by the EYA1 gene—the cochlea appears unwound or offset [7][9]. This means the middle and top turns of the “snail” are rotated or shifted away from the base [7]. Please note that this structural difference does not cause any physical pain; it simply changes how the ear processes mechanical sound [9]. This finding is highly specific to BOR; seeing it often gives doctors immediate confidence in the diagnosis even before genetic test results come back [10].

Distinguishing BOR from Other Syndromes

Because some symptoms of BOR overlap with other conditions, doctors must perform a differential diagnosis—ruling out “look-alike” syndromes to ensure your child gets the right care.

Condition Common Features Shared with BOR Key Differences
Townes-Brocks Syndrome Ear pits, hearing loss, and kidney issues [1]. Often involves extra thumbs or differences in the shape of the anus [1]. Caused by the SALL1 gene.
Pendred Syndrome Hearing loss [11]. Often involves an enlarged thyroid gland (goiter) and a specific ear feature called an enlarged vestibular aqueduct (EVA) [12].
Alport Syndrome Hearing loss and kidney issues [13]. Primarily affects the filters of the kidney, often leading to blood in the urine, and does not cause neck cysts [13].

By carefully comparing these physical features and using genetic testing, your medical team can confirm if your child truly has BOR syndrome rather than a similar-looking condition [1][14].

Common questions in this guide

What are the major criteria for diagnosing BOR syndrome?
The major clinical criteria include branchial arch anomalies like neck cysts or holes, varying degrees of hearing loss, preauricular pits (tiny holes in front of the ear), and structural kidney differences.
What does an unwound cochlea mean on a CT scan?
In many children with BOR syndrome, a temporal bone CT scan shows an unwound or offset cochlea. This means the snail-shaped hearing organ is uniquely rotated, which is a highly specific clue that helps doctors confirm a BOR diagnosis.
How many criteria are needed to diagnose BOR syndrome?
Doctors typically make a diagnosis if a child meets three major criteria, or two major criteria combined with two minor criteria. The requirements may be less strict if a close family member already has a confirmed BOR diagnosis.
How is BOR syndrome different from Townes-Brocks syndrome?
While both conditions can cause ear pits, hearing loss, and kidney issues, Townes-Brocks syndrome often involves additional physical features like extra thumbs or differences in the shape of the anus, and is caused by a different gene.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Does my child meet the specific 'major' and 'minor' clinical criteria for a BOR diagnosis?
  2. 2.Did the temporal bone CT show an 'offset' cochlea, and does that suggest a specific gene like EYA1?
  3. 3.How did you rule out other conditions like Townes-Brocks syndrome or Pendred syndrome?
  4. 4.Are the ear anomalies seen on imaging likely to affect the success of future surgeries or hearing aids?

Questions For You

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References

References (14)
  1. 1

    [Emphasizing the application of genetic diagnosis in branchio-oto-renal syndrome].

    Wen YY, Sun Y, Kong WJ

    Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 2018; (32(16)):1226-1231 doi:10.13201/j.issn.1001-1781.2018.16.005.

    PMID: 30282165
  2. 2

    Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms.

    Zhang H, Gao J, Wang H, et al.

    BMC medical genomics 2024; (17(1)):89 doi:10.1186/s12920-024-01858-y.

    PMID: 38627775
  3. 3

    Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy.

    Men M, Li W, Chen H, et al.

    The Laryngoscope 2020; (130(2)):526-532 doi:10.1002/lary.27941.

    PMID: 30908667
  4. 4

    Genetic research progress in branchio-oto syndrome/ branchio-oto-renal syndrome.

    Chen A, Ling J, Feng Y

    Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2022; (47(1)):129-138 doi:10.11817/j.issn.1672-7347.2022.210251.

    PMID: 35545373
  5. 5

    Hearing characteristics of Branchio-oto-renal syndrome in Japan.

    Goto SI, Sasaki A, Nishio SY, et al.

    Acta oto-laryngologica 2026; 1-10 doi:10.1080/00016489.2026.2635665.

    PMID: 41842599
  6. 6

    Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports.

    Williams LE, Sohner MT, Sibley RC, Pfeifer CM

    Acta radiologica open 2019; (8(7)):2058460119861606 doi:10.1177/2058460119861606.

    PMID: 31384484
  7. 7

    The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome.

    Hsu A, Desai N, Paldino MJ

    AJNR. American journal of neuroradiology 2018; (39(12)):2345-2349 doi:10.3174/ajnr.A5856.

    PMID: 30385470
  8. 8

    [Clinical features and temporal CT findings in patients with Branchio-Oto-Renal or Branchio-Oto Syndrome].

    Yang H, Feng HF, Lu W

    Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2024; (59(4)):366-372 doi:10.3760/cma.j.cn115330-20231019-00160.

    PMID: 38622020
  9. 9

    Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation.

    Pao J, D'Arco F, Clement E, et al.

    AJNR. American journal of neuroradiology 2022; (43(2)):309-314 doi:10.3174/ajnr.A7396.

    PMID: 35058298
  10. 10

    The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns.

    Juliano AF, D'Arco F, Pao J, et al.

    AJNR. American journal of neuroradiology 2022; (43(11)):1646-1652 doi:10.3174/ajnr.A7653.

    PMID: 36175083
  11. 11

    Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

    Gettelfinger JD, Dahl JP

    Journal of pediatric genetics 2018; (7(1)):1-8 doi:10.1055/s-0037-1617454.

    PMID: 29441214
  12. 12

    X-linked deafness/incomplete partition type 3: Radiological evaluation of temporal bone and intracranial findings.

    Parlak S, Gumeler E, Sennaroglu L, Ozgen B

    Diagnostic and interventional radiology (Ankara, Turkey) 2022; (28(1)):50-57 doi:10.5152/dir.2021.20791.

    PMID: 34914607
  13. 13

    Misdiagnosed Branchio-Oto-Renal syndrome presenting as proteinuria and renal insufficiency with insidious signs since early childhood: a report of three cases.

    Lin Z, Li J, Pei Y, et al.

    BMC nephrology 2023; (24(1)):248 doi:10.1186/s12882-023-03193-3.

    PMID: 37612603
  14. 14

    Case report of a novel GREB1L gene mutation in a patient with branchio-oto-renal syndrome.

    Chen S, Yang Z, Wang M, Zhong C

    Journal of otology 2025; (20(2)):67-71 doi:10.26599/JOTO.2025.9540011.

    PMID: 41069697

This page provides educational information on the diagnostic criteria for Branchio-Oto-Renal (BOR) syndrome. It is not a substitute for professional medical advice, and you should always consult a pediatric specialist or geneticist for a formal diagnosis.

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