Cerebro oculo facio skeletal (COFS) syndrome is a genetic degenerative disorder of the brain and spinal cord that begins before birth. Individuals with cerebro-oculo-facio-skeletal syndrome are usually identified at birth or shortly thereafter, on the basis of their physical appearance and severe psychomotor retardation. However, some may present prenatally.
The disorder is characterized by growth failure at birth and little or no neurological development, structural abnormalities of the eye and fixed bending of the spine and joints. Abnormalities of the skull, face, limbs and other parts of the body may also occur. COFS syndrome is inherited as an autosomal recessive genetic trait. COFS is now considered to be part of the spectrum of disorders within Cockayne syndrome.
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.
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