Lissencephaly / Disease

Diseases & Conditions

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Lissencephaly

Synonyms of Lissencephaly

agyria
lissencephaly, type I

Disorder Subdivisions

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

Organizations related to Lissencephaly

Lissencephaly Contact Group
209-211 City Road
London Intl EC1V 1JN
Phone #: 020- 76-08 8700
800 #: 080-8 8-08 3555
e-mail: [email protected]
Home page: http://www.lissencephaly.org.uk
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
Home page: http://www.madisonsfoundation.org
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: [email protected]
Home page: http://www.ninds.nih.gov/

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