Hydrocephaly-cerebellar agenesis syndrome

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Hydrocephaly-cerebellar agenesis syndrome

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. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978.

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 February 2024

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