renal tubular dysgenesis
Findings
No curated finding names renal tubular dysgenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.
Definition from the Mondo Disease Ontology (MONDO:0017609), read 2026-09-29. CC BY 4.0.
Features
13 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.
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
- Multiple renal cystsHPOHP:0005562
- Very frequent (80% to 99% of cases)
- PolyhydramniosHPOHP:0001561
- Very frequent (80% to 99% of cases)
- Premature birthHPOHP:0001622
- Very frequent (80% to 99% of cases)
- Proximal tubulopathyHPOHP:0000114
- Very frequent (80% to 99% of cases)
- Pulmonary hypoplasia
Show the remaining 1
- Tetralogy of FallotHPOHP:0001636
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: renal tubular dysgenesis
- Also called
- primitive renal tubule syndromerenotubular dysgenesis