Renal tubular dysgenesis

Orpha code: 3033OMIM code: 267430

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.

Disease data
Classification

Malformation syndrome

Synonyms
Primitive renal tubule syndrome
Dysgenezja nerkowo-kanalikowa
Zespół niezróżnicowanych kanalików nerkowych
Renotubular dysgenesis
ORPHA code
3033
OMIM code
267430
ICD10 code
Q63.8
ICD11 code
LB30.3

No additional description.

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