What is the diagnosis of Cerebro Oculo Facio Skeletal Syndrome?

By  ,  Onlymyhealth editorial team
Dec 27, 2012
Quick Bites

  • COFS syndrome is a genetic degenerative disorder.
  • Ultrasound technology can detect foetuses with COFS.
  • Treatment depends on the kind of symptoms.
  • Individuals with the disorder may need of tube feeding.

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 diagnosis


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.


Diagnosis and Treatment

COFS is diagnosed at birth. Ultrasound technology can detect foetuses 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.

The treatment of cerebro-oculo-facio-skeletal syndrome depends on the kind of symptoms the person has and how severe it is. Individuals suffering from the disorder tend to often be in need of tube feeding. Since COFS is genetic, one may seek genetic counseling as well.


(Image source:Gettyimages.in)

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