/pontocerebellar hypoplasia type 4

pontocerebellar hypoplasia type 4

Rare Disease

MONDO:0009166

Also Known As

PCH4fatal infantile encephalopathy with olivopontocerebellar hypoplasiaolivopontocerebellar hypoplasiaencephalopathy fatal infantile with olivopontocerebellar hypoplasiaencephalopathy, fatal infantile, with olivopontocerebellar Hypoplasiapontocerebellar hypoplasia, type 4

Definition

Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.