BOR syndrome
ORPHA:107· ICD-10 Q87.8
Definition
A rare otomandibular dysplasia 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 malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal