Other Names for this Disease
- COFS syndrome
- Pena-Shokeir syndrome type 2
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 Affected individuals have mild to severe intellectual disability, severely reduced muscle tone (hypotonia), impaired reflexes, vision impairment, and involuntary eye movements. Children with COFS syndrome have distinctive facial features, including low-set ears, small eyes, small head size (microcephaly), and a small jaw (micrognathia). They may also have abnormalities of the skull, limbs, heart, and kidneys. Individuals with COFS syndrome are often diagnosed at birth. In many cases, the cause of the disorder is unknown. Some children with this condition have mutations in the ERCC1, ERCC2, ERCC5, or ERCC6 gene. When an individual has the features of COFS syndrome and a mutation in the ERCC6 gene, they are said to have Cockayne syndrome type II. COFS syndrome is inherited in an autosomal recessive manner. Most children with this condition do not live past age 5. Treatment involves supportive care and is based on an individual's symptoms.Cerebro-oculo-facio-skeletal (COFS) syndrome is a degenerative disorder that primarily involves the brain, eyes, and spinal cord.
Last updated: 7/14/2009
- 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.
- COFS syndrome. Orphanet. February 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1466. Accessed 7/14/2009.
- Cerebrooculofacioskeletal syndrome. OMIM Database. http://www.ncbi.nlm.nih.gov/sites/entrez?Db=omim&Cmd=DetailsSearch&Term=CEREBROOCULOFACIOSKELETAL%5BTitle%5D. Accessed July 14, 2009..
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Cerebro-oculo-facio-skeletal syndrome. Click on the link to view a sample search on this topic.