Radio-renal syndrome
ORPHA:3015· ICD-10 Q87.8
Definition
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal