radio-renal syndrome
Findings
No curated finding names radio-renal syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008359), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent radiusHPOHP:0003974
- 2 of 2 reported patients
- Absent thumbHPOHP:0009777
- 2 of 2 reported patients
- Chromosome breakageHPOHP:0040012
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- Abnormal rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Abnormality of the elbowHPO
Show the remaining 19
- DyspneaHPOHP:0002094
- Very frequent (80% to 99% of cases)
- High, narrow palateHPOHP:0002705
- Very frequent (80% to 99% of cases)
- Hypoplasia of the radiusHPOHP:0002984
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- Multicystic kidney dysplasiaHPOHP:0000003
- Very frequent (80% to 99% of cases)