Ventriculomegaly-cystic kidney disease

Orpha code: 443988OMIM code: 219730

Definition

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
Classification

Disease

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

No additional description.

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