Cerebro oculo facio skeletal (COFS) syndrome is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord that begins before birth. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Other findings 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, and intellectual disability, which can be moderate or severe. Respiratory infections are frequent. 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.
NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome).
DIAGNOSTIC TESTING AND CODING
COFS is usually diagnosed at birth. However, ultrasound technology can detect fetuses with COFS at an early stage of pregnancy because the fetus moves very little. Some of the abnormalities result, in part, from a lack of movement.