Cerebellum agenesis hydrocephaly
Alternate names
Hydrocephalus with cerebellar agenesis
Definition
A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth and is fatal in the neonatal period. There have been no further descriptions in the literature since 1973.
NIH genetic and rare disease info
Cerebellum agenesis hydrocephaly is a rare disease.
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