BOR-синдром
ORPHA:107· ICD-10 Q87.8· BOR syndrome
Визначення(English summary)
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).
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal dominant
- Вік початку
- Antenatal, Childhood, Infancy, Neonatal