Short answer · Medically reviewed summary · Last updated: 2026-05-08
Branchio Oto Renal (BOR) syndrome is classified under the ICD-10-CM code Q87.0, which covers congenital malformation syndromes affecting multiple systems. While ICD-9-CM codes are largely deprecated in modern clinical practice, Branchio Oto Renal syndrome was historically categorized under 759.89, representing other specified congenital anomaly syndromes. What is the clinical significance of Branchio Oto Renal syndrome? Branchio Oto Renal syndrome is a rare genetic disorder characterized by the triad of branchial arch anomalies (such as cysts or fistulas in the neck), ear abnormalities (including hearing loss and structural outer/middle ear defects), and renal (kidney) malformations.
ICD10 code of Branchio Oto Renal Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Branchio Oto Renal Syndrome, with classification details for clinicians, coders and patients.
Branchio Oto Renal (BOR) syndrome is classified under the ICD-10-CM code Q87.0, which covers congenital malformation syndromes affecting multiple systems. While ICD-9-CM codes are largely deprecated in modern clinical practice, Branchio Oto Renal syndrome was historically categorized under 759.89, representing other specified congenital anomaly syndromes.
What is the clinical significance of Branchio Oto Renal syndrome?
Branchio Oto Renal syndrome is a rare genetic disorder characterized by the triad of branchial arch anomalies (such as cysts or fistulas in the neck), ear abnormalities (including hearing loss and structural outer/middle ear defects), and renal (kidney) malformations. Because Branchio Oto Renal syndrome affects multiple organ systems, a multidisciplinary approach involving nephrologists, otolaryngologists, and geneticists is essential for long-term management.
How is Branchio Oto Renal syndrome diagnosed?
Diagnosis of Branchio Oto Renal syndrome is typically based on clinical criteria established by the presence of specific findings, often confirmed through molecular genetic testing. Geneticists look for pathogenic variants in the EYA1, SIX1, or SIX5 genes, which account for the majority of clinical cases. Early diagnosis is vital, as the severity of kidney involvement in Branchio Oto Renal syndrome can range from mild dysplasia to complete renal agenesis.
Is Branchio Oto Renal syndrome hereditary?
Yes, Branchio Oto Renal syndrome follows an autosomal dominant inheritance pattern. This means that an individual with Branchio Oto Renal syndrome has a 50% chance of passing the condition to each of their children. Genetic counseling is highly recommended for families to understand the risks and discuss reproductive options.
Common clinical features of Branchio Oto Renal syndrome
- Branchial cleft cysts or fistulae located along the neck.
- Sensorineural, conductive, or mixed hearing loss.
- Structural ear anomalies, such as preauricular pits or tags.
- Renal hypoplasia or agenesis (underdeveloped or missing kidneys).
- Lacrimal duct stenosis (narrowing of the tear ducts).
Next steps
- Consult a clinical geneticist for formal testing and family counseling.
- Schedule routine renal function monitoring with a pediatric or adult nephrologist.
- Connect with the 33 members of the Branchio Oto Renal syndrome community on DiseaseMaps.org to share experiences.
- Ensure regular audiological evaluations to manage potential hearing impairment.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always seek the advice of your physician regarding a medical condition.
References
- National Institutes of Health (NIH) GARD: Branchio-oto-renal syndrome
- Orphanet: ORPHA126 - Branchio-oto-renal syndrome
- OMIM (Online Mendelian Inheritance in Man): #113650 - Branchiootorenal Syndrome 1
- National Kidney Foundation: Information on genetic kidney diseases
