branchiootorenal syndrome
ICD-10: Q87.0MeSH: D019280ORPHA: 2432
Overview
autosomal dominant genetic disorder involving the kidneys, ears, and neck
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with branchiootorenal syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal cranial suture/fontanelle morphologyBroad foreheadMicrocorneaMicrophthalmiaLarge for gestational ageRecurrent respiratory infectionsHepatomegalyRespiratory insufficiencyAbnormal calvaria morphologyCorneal opacityMedian cleft palatePtosisCraniosynostosisHypotelorismGlossoptosis
Classification & Codes
ICD-10 Code
Q87.0MeSH Code
D019280Orphanet Code
ORPHA:2432branchiootorenal syndrome
| ICD-10 | Q87.0 |
| MeSH | D019280 |
| Orphanet | ORPHA:2432 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO