Pontocerebellar Hypoplasia, Type 4

Alternative Names

  • PCH4
  • Encephalopathy, Fatal Infantile, With Olivopontocerebellar Hypoplasia
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

225753

Gene Map Locus

17q25.1

Description

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. Pontocerebellar hypoplasia type 4 (PCH4) is characterized by severe course and early lethality ({2:Budde et al., 2008}). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596}).

Epidemiology in the Arab World

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Other Reports

United Arab Emirates

Al-Gazali et al. 1999 reported on an unknown subtype of pontocerebellar hypoplasia in two siblings from a multiple consanguineous family. They exhibited cerebral and pontocerebellar hypoplasia, gyral abnormalities, and arthryogryposis with myopathic features. 

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