Cerebro-oculo-facio-skeletal (COFS) syndrome—also known as COFS syndrome and Pena-Shokeir syndrome, Type II—is an inherited, degenerative disorder that involves the brain, eyes, and spinal cord. COFS syndrome can be detected in fetuses through ultrasound technology or it can be diagnosed at birth.

In most cases, the cause of COFS syndrome is unknown, but some cases have been identified by mutated genes which are thought to be the cause. It is characterized by skull, facial, and skeletal abnormalities. Symptoms may include:

• Impaired cognitive development, which can be severe
• Abnormally small head (microcephaly)
• Reduced muscle tone (hypotonia)
• Impaired reflexes
• Impaired vision
• Involuntary eye movements

A child with COFS may also have an abnormally small jaw (micrognathia), clenched fists, and wide-set nipples. Respiratory infections may be frequent. There is no cure for COFS syndrome, and most children do not live beyond five years. Treatment is supportive and symptomatic as genetic counseling is available.

NOTE: COFS syndrome is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome).