Renal tubular dysgenesis
ORPHA:3033· ICD-10 Q63.8
Definition
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Antenatal