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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pontocerebellar hypoplasia


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Overview

Pontocerebellar hypoplasia (PCH) is a group of conditions affecting the brain characterized by underdevelopment of the cerebellum and pons. The cerebellum normally coordinates movement and the pons (located in the brainstem) transmits signals from the cerebellum to the rest of the brain. Several forms of PCH have been described, each having some different signs and symptoms but all characterized by problems with movement, delayed psychomotor development, and intellectual disability. Although each form has a different genetic cause, they are all inherited in an autosomal recessive manner.[1][2] Many children with PCH live only into infancy or childhood, although some individuals have lived into adulthood.[1] Treatment is symptomatic and supportive.[2]
Last updated: 12/18/2012

References

  1. Pontocerebellar hypoplasia. Genetics Home Reference. December 2009; http://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia. Accessed 12/18/2012.
  2. Pontocerebellar hypoplasia. NORD. March 16, 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1211/viewAbstract. Accessed 12/18/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Pontocerebellar hypoplasia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pontocerebellar hypoplasia. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.