How do people inherit Cerebro Oculo Facio Skeletal Syndrome?

By  ,  Onlymyhealth editorial team
Dec 27, 2012

Subscribe for daily wellness inspiration

Like onlymyhealth on Facebook!

Quick Bites

  • COFS syndrome is a genetic degenerative disorder.
  • It is characterized by severe psychomotor retardation.
  • Mutation in the "ERCC6" gene is believed to cause the syndrome.
  • Defects in XPG and XPD genes is also linked with the condition.

Cerebro oculo facio skeletal (COFS) syndrome is a genetic degenerative disorder of the brain and spinal cord that begins before birth. Individuals with cerebro-oculo-facio-skeletal syndrome are usually identified at birth or shortly thereafter, on the basis of their physical appearance and severe psychomotor retardation. However, some may present prenatally.


cerebro-oculo-facio-skeletal syndrome


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.

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.




Read more articles on Cerebro Oculo Facio Skeletal Syndrome.


Write a Review Feedback
Is it Helpful Article?YES10788 Views 0 Comment
Post a Comment

Though all possible measures have been taken to ensure accuracy, reliability, timeliness and authenticity of the information; Onlymyhealth assumes no liability for the same. Using any information of this website is at the viewers’ risk. Please be informed that we are not responsible for advice/tips given by any third party in form of comments on article pages . If you have or suspect having any medical condition, kindly contact your professional health care provider.

  • All
  • Article
  • Slideshow
  • Video

    Medical Miracle

    India’s pregnant man?India’s pregnant man?