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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