loading...| Preferred Name | Renal tubular dysgenesis | |
| Synonyms |
Renotubular dysgenesis Primitive renal tubule syndrome |
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| Definitions |
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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_3033 |
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| alternative_term |
Renotubular dysgenesis Primitive renal tubule syndrome |
|
| 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. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3033 |
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| has_age_of_onset |
Antenatal |
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| has_inheritance |
Not applicable Autosomal recessive |
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| hasDbXref |
OMIM:267430 UMLS:C0266313 ICD-11:LB30.3 ICD-10:Q63.8 |
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| label |
Renal tubular dysgenesis |
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| notation |
ORPHA:3033 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_3033 |
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| prefLabel |
Renal tubular dysgenesis |
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| present_in |
Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown |
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| treeView | ||
| subClassOf |