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.
- cerebroocular dysgenesis (COD)
- cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD syndrome)
- Chemke syndrome congenital muscular dystrophy-
- dystroglycanopathy type A [with brain and eye anomalies] (MDDGA)
- hydrocephalus, agyria, and retinal dysplasia (HARD syndrome)
- Pagon syndrome
- Warburg syndrome
Walker-Warburg syndrome (WWS) is a rare multisystem disorder characterized by muscle, brain and eye abnormalities, often leading to death in the first weeks of life. However, the specific symptoms and severity of WWS can vary greatly from case to case. The most consistent features are (1) a smooth appearance of the surface of the brain due to lack of normal folding pattern (lissencephaly or agyria), often with malformations of other brain structures including the cerebellum and brain stem, (2) various developmental abnormalities of the eye and (3) progressive degeneration and weakness of the voluntary muscles which is called congenital muscular dystrophy. WWS demonstrates autosomal recessive inheritance, with a recurrence risk of 1 in 4 or 25% for a couple who has previously had a child diagnosed with this genetic condition.
WWS is a severe form of the broader spectrum of conditions referred to as CMD (congenital 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. These disorders affect different muscles, may or may not have other body systems involved, and have different ages of onset, severity and inheritance patterns. The disorder was first reported in the medical literature in 1942.
Cure CMD (Congenital Muscular Dystrophy)
- P.O. Box 701
- Olathe, KS 66051
- Tel: (866)400-3626
- Email: firstname.lastname@example.org
- Website: http://www.curecmd.org
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
- Website: http://rarediseases.info.nih.gov/GARD/
Global FKRP Registry
- TREAT-NMD Office
- Institute of Genetic Medicine
- Newcastle upon Tyne, NE1 3BZ
- United Kingdom
- Tel: 4401912418617
- Fax: 4401912418770
- Email: email@example.com
- Website: https://www.fkrp-registry.org/
- 4340 East West Highway Ste 950
- Bethesda, MD 20814
- Tel: (301)202-3811
- Fax: (301)202-3813
- Tel: (888)598-3789
- Email: firstname.lastname@example.org
- Website: http://www.hydroassoc.org
NIH/National Institute of Neurological Disorders and Stroke
- P.O. Box 5801
- Bethesda, MD 20824
- Tel: (301)496-5751
- Fax: (301)402-2186
- Tel: (800)352-9424
- Website: http://www.ninds.nih.gov/
National Hydrocephalus Foundation
- 12413 Centralia Rd.
- Lakewood, CA 90715-1653
- Tel: (562)924-6666
- Fax: (562)924-6666
- Tel: (888)857-3434
- Email: email@example.com
- Website: http://www.nhfonline.org
For a Complete Report
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: 1/8/1970
Copyright 2012 National Organization for Rare Disorders, Inc.
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