Walker Warburg Syndrome
National Organization for Rare Disorders, Inc.
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 Back to top
- Cerebroocular Dysgenesis
- Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
- Chemke Syndrome
- COD-MD Syndrome
- HARD +/-E Syndrome
- HARD Syndrome
- Hydrocephalus, Agyria, and Retinal Dysplasia
- Pagon Syndrome
- Warburg Syndrome
Disorder Subdivisions Back to top
General Discussion Back to top
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 disorders 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 Back to top
National Hydrocephalus Foundation
12413 Centralia Rd.
Lakewood, CA 90715-1653
Guardians of Hydrocephalus Research Foundation
2618 Avenue Z
Brooklyn, NY 11235
870 Market Street
San Francisco, CA 94102
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Cure CMD (Congenital Muscular Dystrophy)
P.O. Box 701
Olathe, KS 66051
For a Complete Report Back to top
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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 firstname.lastname@example.org
Last Updated: 3/10/2009
Copyright 1993, 1995, 1996, 1999, 2007, 2009 National Organization for Rare Disorders, Inc.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.