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Branchio-oto-renal syndrome
rareA syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), 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).
- Identifiers
- MONDO:0007029 Orphanet:107
- Part of
- Autosomal dominant diseaseMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic disease
- Also known as
- Branchio oto renal syndrome · branchiootorenal syndrome · Melnick-Fraser syndrome
Subtypes
| Disease | Subtypes |
|---|---|
| Branchiootorenal syndrome 1 | |
| Branchiootorenal syndrome 2 |
Rare disease
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