Renal tubular dysgenesis

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Renal tubular dysgenesis

Synonyms: Primitive renal tubule syndrome | Renotubular dysgenesis

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Renal tubular dysgenesis?

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