INFORMATION ON CEREBRO-OCULO-FACIO-SKELETAL SYNDROME

Cerebro-Oculo-Facio-Skeletal syndrome is a genetic, degenerative disorder that involves the brain and the spinal cord. It starts before birth. Cerebro-Oculo-Facio-Skeletal syndrome is characterized by craniofacial and skeletal abnormalities, severely concentrated muscle tone, and impairment of reflexes.
Cerebro-Oculo-Facio-Skeletal syndrome is also called COFS.

SYMPTOMS OF CEREBRO-OCULO-FACIO-SKELETAL SYNDROME

The most general symptoms are:
• Large, low-set ears
• Small eyes
• Abnormal smallness of the head
• Abnormal smallness of the jaws
• Clenched fists
• Wide-set nipples
• Vision impairments
• spontaneous eye movements
• Mental retardation, which can be moderate or harsh
• common respiratory infections

CAUSES OF CEREBRO-OCULO-FACIO-SKELETAL SYNDROME

Cerebro-Oculo-Facio-Skeletal syndrome is present at birth as an autosomal recessive genetic characteristic.

TREATMENT OF CEREBRO-OCULO-FACIO-SKELETAL SYNDROME

Treatment is aimed at reducing the severity of the symptoms. Persons with Cerebro-Oculo-Facio-Skeletal syndrome often require tube feeding.
Cerebro-Oculo-Facio-Skeletal syndrome is a fatal disease. Most children do not live beyond five years.