Cerebro-oculo-facio-skeletal (COFS) syndrome is a genetic degenerative disorder affecting the brain and spinal cord, typically manifesting before birth. This condition is characterized by growth failure at birth, minimal or no neurological development, and structural abnormalities of the eyes, spine, and joints. Additionally, individuals may exhibit abnormalities in the skull, face, limbs, and other parts of the body. COFS syndrome is inherited as an autosomal recessive trait and is now considered part of the spectrum of disorders within Cockayne syndrome.
Affected individuals are usually identified shortly after birth based on their distinct physical features and severe psychomotor retardation. Common characteristics include microcephaly, ocular anomalies such as cataracts and microphthalmia, distinctive facial features, and musculoskeletal abnormalities like limb contractures and scoliosis. Children with COFS syndrome typically experience delayed motor development and may have seizures, impaired vision and hearing, feeding difficulties, and failure to thrive. Despite adequate caloric intake, they may lose weight due to recurrent respiratory infections, often leading to death in infancy or early childhood, usually by around 6 years of age. Some cases may exhibit variable progression, suggesting potential subtypes of the syndrome.