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: //www.orphadata.org. Data version October 2023.
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Ventriculomegaly-cystic kidney disease?
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Advocacy Organizations
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Clinical Trials
For a list of clinical trials in this disease area, please click here.