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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cerebro-oculo-facio-skeletal syndrome


Other Names for this Disease
  • COFS syndrome
  • Pena-Shokeir syndrome type 2
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Treatment

Newline Maker

What treatment is available for cerebro-oculo-facio-skeletal (COFS) syndrome?

Treatment for COFS syndrome involves supportive care and is based on an individual's symptoms. People with this condition often require a feeding tube to obtain adequate nutrition.[1]
Last updated: 7/14/2009

References
  1. NINDS Cerebro-Oculo-Facio-Skeletal Syndrome Information Page. National Institute of Neurological Disorders and Stroke Website. November 18, 2008; http://www.ninds.nih.gov/disorders/cofs/cofs.htm. Accessed 7/14/2009.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Clinical Trials & Research for this Disease

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
Other Names for this Disease
  • COFS syndrome
  • Pena-Shokeir syndrome type 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.