Cerebellum agenesis hydrocephaly

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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.

Rare and genetic diseases

Rare diseases - Cerebellum agenesis hydrocephaly

A-Z list of rare diseases
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Cerebellum agenesis hydrocephaly

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