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Renal tubular dysgenesis

Disease 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.

ORPHA:3033

Classification level: Disorder
  • Synonym(s):
    • Primitive renal tubule syndrome
    • Renotubular dysgenesis
  • Prevalence: -
  • Inheritance: Autosomal recessive or Not applicable 
  • Age of onset: Antenatal
  • ICD-10: Q63.8
  • OMIM: 267430
  • UMLS: C0266313
  • MeSH: -
  • GARD: 379
  • MedDRA: -

Detailed information

Professionals

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