Arima syndrome is an autosomal recessive disorder characterized by agenesis of the cerebellar vermis, ocular abnormalities, multicystic kidneys (cystic kidney disease), and, in some cases, liver disease.
It shares phenotypic features with Joubert syndrome, COACH syndrome (MIM.216360), and familial juvenile nephronophthisis (MIM.256100).
Synopsis
renal anomalies
- nephronophthisis
- end-stage renal disease during childhood
- polyuria/polydipsia
- anemia
- growth failure
- decreased urinary concentrating ability
- excessive sodium loss
- small kidneys
- multicystic kidneys (cystic kidney disease)
- chronic sclerosing tubulo-interstitial nephropathy
- cystic tubuli predominantly located at cortico-medullary areas
- no renal dysplasia
See also
Joubert-related cerebello-oculo-renal syndromes