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
• Impairment of reflexes

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.

Symptoms may include:

• Large, low-set ears
• Small eyes
• Microcephaly – abnormal smallness of the head
• Micrognathia – 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

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.

COFS is a fatal disease. Most children do not live beyond five years.

Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available.