Радіоренальний синдром
ORPHA:3015· ICD-10 Q87.8· Radio-renal syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Вік початку
- Neonatal