Conditions / Syndrome
ventriculomegaly - cystic kidney disease
info · Syndrome
A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the CRB2 gene on chromosome 9q33.3.
Signs and symptoms
- Seizure
- Ventriculomegaly
- Renal corticomedullary cysts
- Polyhydramnios
- Renal insufficiency
- Postaxial polydactyly
- Hydrocephalus
- Vascular dilatation
- Hyperechogenic kidneys
- Tubular luminal dilatation
Also known as: VMCKD; congenital nephrosis-cerebral ventriculomegaly syndrome; cystic kidney disease with ventriculomegaly; ventriculomegaly with cystic kidney disease