Ventriculomegaly-cystic kidney disease

Orpha code: 443988OMIM code: 219730

Definicja

A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others.

Disease data
Klasyfikacja

Disease

Synonimy
Congenital nephrosis-cerebral ventriculomegaly syndrome
VMCKD
Wrodzona nefroza z wentrikulomegalią mózgową
VMCKD
Kod ORPHA
443988
Kod OMIM
219730
Kod ICD10
-
Kod ICD11
-

No additional description.

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