Cerebro Oculo Facio Skeletal Syndrome
Author: Disabled World : Contact: Disabled World
Published: 2009-04-01 : (Rev. 2016-01-14)
Synopsis and Key Points:
Cerebro oculo facio skeletal syndrome is a pediatric genetic degenerative disorder that involves the brain and the spinal cord that begins before birth.
Cerebro oculo facio skeletal (COFS) syndrome is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord that begins before birth.
Alternate Names: Cockayne Syndrome-Classical Type I, Cockayne Syndrome-Congenital Type II, Pena Shokeir Syndrome Type II
It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes.
Other findings may include;
- large, low-set ears,
- small eyes,
- microcephaly (abnormal smallness of the head),
- micrognathia (abnormal smallness of the jaws),
- clenched fists,
- wide-set nipples,
- vision impairments,
- involuntary eye movements,
- mental retardation, which can be moderate or severe.
- Respiratory infections are frequent.
A small number of individuals with COFS have a mutation in the "ERCC6" gene and are more appropriately diagnosed as having Cockayne Syndrome Type II.
Other individuals with COFS may have defects in the xeroderma pigmentosum genes "XPG" or "XPD". Still others who are diagnosed with COFS have no identifiable genetic defect and are presumably affected because of mutations in a distinct, as-yet-unknown gene.
NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome)
COFS is usually diagnosed at birth. However, ultrasound technology can detect fetuses with COFS at an early stage of pregnancy because the fetus moves very little. Some of the abnormalities result, in part, from a lack of movement.
Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available.
COFS is a fatal disease. Death usually occurs by 5 years of age.
- 1 - Baby Formula Higher Arsenic Than Breast Milk : Dartmouth College (2015/02/23)
- 2 - Childhood Trauma Symptoms and Behavior Information : Disabled World (2015/06/22)
- 3 - Teen Puberty Now A Gateway to Heart Disease : Heart and Stroke Foundation of Canada (2009/10/27)
- 4 - Osgood-Schlatters Disease: Causes, Diagnosis and Treatments : Disabled World (2009/03/20)
- 5 - Screening Lowers Severe Jaundice Risk in Babies : University of California San Francisco (2009/09/28)
- 6 - Jaundice in the Newborn Baby : Cecilia Koh (2017/10/03)
- 7 - Coaxing Kids Through Vaccinations - Pain Expectation is Pain Reality for Children : University of California - Riverside (2018/06/04)
• Disabled World is strictly a news and information website provided for general informational purpose only and does not constitute medical advice. Materials presented are in no way meant to be a substitute for professional medical care by a qualified practitioner, nor should they be construed as such. Any 3rd party offering or advertising on disabled-world.com does not constitute endorsement by Disabled World. Please report outdated or inaccurate information to us.