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Cerebro-Oculo-Facio-Skeletal Syndrome

What is Cerebro-Oculo-Facio-Skeletal Syndrome?

Cerebro-oculo-facio-skeletal syndrome is a genetic, degenerative disorder that involves the brain and the spinal cord. It begins before birth. Cerebro-oculo-facio-skeletal syndrome is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes.

Cerebro-oculo-facio-skeletal syndrome is also called COFS.

Symptoms of Cerebro-oculo-facio-skeletal Syndrome

The most common symptoms of Cerebro-oculo-facio-skeletal syndrome are:

  • Large, low-set ears
  • Small eyes
  • Abnormal smallness of the head
  • Abnormal smallness of the jaws
  • Clenched fists
  • Wide-set nipples
  • Vision impairments
  • Involuntary eye movements
  • Mental retardation, which can be moderate or severe
  • Frequent respiratory infections

What Causes Cerebro-oculo-facio-skeletal Syndrome?

Cerebro-oculo-facio-skeletal syndrome syndrome is inherited as an autosomal recessive genetic trait.

How is Cerebro-oculo-facio-skeletal Syndrome Diagnosed?

Cerebro-oculo-facio-skeletal syndrome is diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy. During pregnancy, the fetus moves very little. Some of the abnormalities are a result of the lack of movement.

Can Cerebro-oculo-facio-skeletal Syndrome be Treated?

Treatment is aimed at reducing the severity of the symptoms. Individuals with Cerebro-oculo-facio-skeletal syndrome often require tube feeding.

Complications of Cerebro-oculo-facio-skeletal Syndrome

Cerebro-oculo-facio-skeletal syndrome is a fatal disease. Most children do not live beyond five years.

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