Walker Warburg Syndrome

Important
It is possible that the main title of the report Walker Warburg Syndrome 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

Cerebroocular Dysgenesis
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
Chemke Syndrome
COD
COD-MD Syndrome
HARD +/-E Syndrome
HARD Syndrome
Hydrocephalus, Agyria, and Retinal Dysplasia
Pagon Syndrome
Warburg Syndrome
WWS

Disorder Subdivisions

None

General Discussion

Walker-Warburg syndrome (WWS) is a rare genetic multisystem disorder characterized by muscle disease and brain and eye abnormalities. The specific symptoms and severity of WWS vary greatly from case to case. The most consistent features are a smooth appearance of the surface of the brain due to lack of normal folds (lissencephaly), malformations of other brain structures (cerebellum and brain stem), various developmental abnormalities of the eyes, and progressive degeneration and weakness of the voluntary muscles (congenital muscular dystrophy). WWS is inherited as an autosomal recessive trait.

WWS is considered a form of muscular dystrophy, which is a group of disorder characterized by weakness and atrophy of various voluntary muscles of the body. Approximately 30 different disorders make up the muscular dystrophies. The disorders affect different muscles and have different ages of onset, severity and inheritance patterns.

Resources

National Hydrocephalus Foundation
12413 Centralia
Lakewood, CA 90715-1623
USA
Tel: 5629246666
Fax: 5629246666
Tel: 8888573434
Email: nhf@earthlink.net
Internet: http://www.nhfonline.org

Lissencephaly Network, Inc.
10408 Bitterroot Ct
Fort Wayne, IN 46804
USA
Tel: 2194324310
Fax: 2194324310
Email: lissencephalyOne@aol.com
Internet: http://www.lissencephaly.org/

Guardians of Hydrocephalus Research Foundation
2618 Avenue Z
Brooklyn, NY 11235
Tel: (718)743-4473
Fax: (718)743-1171
Tel: (800)458-8655
Email: GHRF2618@aol.com

Hydrocephalus Association
870 Market Street
Suite 705
San Francisco, CA 94102
USA
Tel: 4157327040
Fax: 4157327044
Tel: 8885983789
Email: info@hydroassoc.org
Internet: http://www.hydroassoc.org

Dobyns, William B., M.D.
University of Chicago
Department of Human Genetics
5841 South Maryland Avenue
Room L041, M/C 2050
Chicago, IL 60637
Tel: (773)834-0555
Fax: (773)834-0556
Email: bws1@ix.netcom.com

Ledbetter, David, M.D.
University of Chicago
Molecular Cytogenetics Laboratory
Center for Medical Genetics, Room L038
5841 South Maryland Ave
Chicago, IL 60637-6726
Tel: (312)834-0555
Fax: (312)834-0556
Email: dhl@babies.bsd.uchicago.edu

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: 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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 5/7/2007
Copyright 1993, 1995, 1996, 1999, 2007 National Organization for Rare Disorders, Inc.

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