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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cerebellar hypoplasia


Other Names for this Disease
  • Isolated cerebellar hypoplasia/agenesis
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Overview

Cerebellar hypoplasia (CH) is a neurological condition in which the cerebellum is not completely developed or is smaller than it should be. It may occur with a variety of congenital syndromes, metabolic disorders and neurodegenerative disorders; therefore signs and symptoms may depend upon the associated condition an affected individual has.[1] The most common findings are developmental and speech delay, poor muscle tone (hypotonia), ataxia and abnormal ocular (eye) movements. CH may range from mild or partial underdevelopment to complete absence (agenesis). It can be confined to the cerebellum, or also affect other central nervous system structures. The inheritance pattern may differ depending on the underlying cause of the condition.[2] Treatment is generally symptomatic and supportive and depends upon the underlying disorder and the severity of symptoms.[1]
Last updated: 12/18/2012

References

  1. Cerebellar Hypoplasia. NINDS. September 29, 2011; http://www.ninds.nih.gov/disorders/cerebellar_hypoplasia/cerebellar_hypoplasia.htm. Accessed 2/4/2014.
  2. Ginevra Zanni. Isolated cerebellar hypoplasia/agenesis. Orphanet. February 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1398. Accessed 12/17/2012.
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Basic Information

In Depth Information

  • 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 Cerebellar hypoplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Isolated cerebellar hypoplasia/agenesis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.