Ventriculomegaly-cystic kidney disease

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Ventriculomegaly-cystic kidney disease

Synonyms: Congenital nephrosis-cerebral ventriculomegaly syndrome | VMCKD

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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