Lissencephaly

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Lissencephaly is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • agyria
  • lissencephaly, type I

Disorder Subdivisions

  • subcortical band heterotopia
  • Miller-Dieker syndrome
  • Norman-Roberts syndrome
  • isolated lissencephaly sequence (ILS)
  • lissencephaly 1 (LIS1)
  • x-linked lissencephaly

General Discussion

Classical lissencephaly, also known as lissencephaly type I, is a brain malformation that may occur as an isolated abnormality (isolated lissencephaly sequence [ILS]) or in association with certain underlying syndromes (e.g., Miller-Dieker syndrome, Norman-Roberts syndrome). The condition is characterized by absence (agyria) or incomplete development (pachygyria) of the ridges or convolutions (gyri) of the outer region of the brain (cerebral cortex), causing the brain's surface to appear unusually smooth.

In infants with classical lissencephaly, the head circumference may be smaller than would otherwise be expected (microcephaly). Additional abnormalities may include sudden episodes of uncontrolled electrical activity in the brain (seizures), severe or profound mental retardation, feeding difficulties, growth retardation, and impaired motor abilities. If an underlying syndrome is present, there may be additional symptoms and physical findings.

Researchers indicate that there may be various possible causes of isolated lissencephaly, including viral infections or insufficient blood flow to the brain during fetal development or certain genetic factors. Changes (mutations) of at least two different genes have been implicated in isolated lissencephaly: a gene located on chromosome 17 (known as LIS1) and a gene located on the X-chromosome (known as XLIS or Doublecortin). There is a third gene known as TUBA1A that has been identified as the 3rd genetic cause for this disorder.

Resources

National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

Lissencephaly Contact Group
1 Hillside Drive
Kidderminster
Worcestershire, Intl DY11 5PP
United Kingdom
Tel: 01562 69371
Internet: http://www.lissencephaly.org.uk

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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