Cerebro-Oculo-Facio-Skeletal Syndrome

Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large ...1

... More on Cerebro-Oculo-Facio-Skeletal Syndrome »

Symptoms of Cerebro-Oculo-Facio-Skeletal Syndrome

Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large ...2

... More Symptoms of Cerebro-Oculo-Facio-Skeletal Syndrome »

Causes of Cerebro-Oculo-Facio-Skeletal Syndrome

Cause: Mutations in the ERCC1, ERCC2, ERCC5, and ERCC6 genes have been found to cause some cases of COFS syndrome. These genes provide instructions for making proteins that are involved in repairing damaged DNA.[3] If any of these genes ...3

... More Causes of Cerebro-Oculo-Facio-Skeletal Syndrome »

Diagnosis of Cerebro-Oculo-Facio-Skeletal Syndrome

COFS is diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy, as the fetus moves very little, and some of the abnormalities result, in part, from lack of movement. ...Source: NINDS (NIH)4 ...

... More on Diagnosis of Cerebro-Oculo-Facio-Skeletal Syndrome »

Genetics of Cerebro-Oculo-Facio-Skeletal Syndrome

Modes of inheritance: Autosomal recessive inheritance (HPO, OMIM, Orphanet) ...Source: GTR (NCBI/NIH)5 ...

... More on Genetics of Cerebro-Oculo-Facio-Skeletal Syndrome »

Treatments: Cerebro-Oculo-Facio-Skeletal Syndrome

Is there any treatment? Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available. ...Source: NINDS (NIH)6 ...

... More Treatment Information for Cerebro-Oculo-Facio-Skeletal Syndrome »

Research for Cerebro-Oculo-Facio-Skeletal Syndrome

What research is being done? The NINDS supports research on genetic disorders such as COFS. The goals of this research include finding ways to prevent, treat, and cure these disorders. ...Source: NINDS (NIH)7 ...

... More on Research for Cerebro-Oculo-Facio-Skeletal Syndrome »

Names and Terminology

NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome). ...Source: NINDS (NIH)8 ...

... More General Information on Cerebro-Oculo-Facio-Skeletal Syndrome »

   •   •   •

References

  1. Source: NINDS (NIH): ninds.nih.gov/ disorders/ cofs/ cofs.htm
  2. ibid.
  3. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 6027/ cerebro-oculo-facio-skeletal-syndrome
  4. Source: NINDS (NIH): ninds.nih.gov/ disorders/ cofs/ cofs.htm
  5. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C0220722/ 
  6. Source: NINDS (NIH): ninds.nih.gov/ disorders/ cofs/ cofs.htm
  7. ibid.
  8. ibid.

   •   •   •

Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.