Cerebro Oculo Facio Skeletal Syndrome - General Discussion
SYMPTOMS & TREATMENTS
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.
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: 2/28/2008
Copyright 1988, 1989, 1996, 2003National Organization for Rare Disorders, Inc.
1995-2011 Healthwise, Incorporated. Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated. This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.
- Pregnancy & Parenting
- Health
- Entertainment
- Beauty & Style
- Food
- Home & Garden
- Love & Sex
- Message Boards
- Join
- About iVillage
- Message Boards
- Contact Us
- Advertising Info
- Jobs
- Sitemap
- Terms of Service
- Privacy Policy
-
AdChoices
- International
- Canada
- Mujer de Hoy
- Turkey
- United Kingdom
© 2000-2013 iVillage Inc. All rights reserved. A Division of
NBCUniversal
