Important It is possible that the main title of the report Cerebro Oculo Facio Skeletal 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.
Pena Shokeir II Syndrome
Pena Shokeir Syndrome Type II
Cockayne Syndrome type II
Cerebro-oculo-facio-skeletal (COFS) syndrome is a genetic degenerative disorder of the brain and spinal cord that begins before birth. The disorder is characterized by growth failure at birth and little or no neurological development, structural abnormalities of the eye and fixed bending of the spine and joints. Abnormalities of the skull, face, limbs and other parts of the body may also occur. COFS syndrome is inherited as an autosomal recessive genetic trait. COFS is now considered to be part of the spectrum of disorders within Cockayne syndrome.
Children's Craniofacial Association 13140 Coit Road Suite 517 Dallas, TX 75240 USA Tel: (214)570-9099 Fax: (214)570-8811 Tel: (800)535-3643 Email: contactCCA@ccakids.com Internet: http://www.ccakids.com
March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)997-4488 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
FACES: The National Craniofacial Association PO Box 11082 Chattanooga, TN 37401 Tel: (423)266-1632 Fax: (423)267-3124 Tel: (800)332-2373 Email: email@example.com Internet: http://www.faces-cranio.org
AmeriFace P.O. Box 751112 Limekiln, PA 19535 USA Tel: (702)769-9264 Fax: (702)341-5351 Tel: (888)486-1209 Email: firstname.lastname@example.org Internet: http://www.ameriface.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 TDD: (301)468-5981 Internet: http://www.ninds.nih.gov/
National Foundation for Facial Reconstruction 333 East 30th Street, Lobby Unit New York, NY 10016 Tel: (212)263-6656 Fax: (212)263-7534 Internet: http://www.nffr.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 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
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".
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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 email@example.com
Last Updated: 2/28/2008 Copyright 1988, 1989, 1996, 2003 National Organization for Rare Disorders, Inc.
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