Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. The disease is Monarch Disease Ontology id MONDO_0008926 (COFS syndrome). Also known as: COFS, Cerebro Oculo Facio Skeletal Syndrome, Pena-Shokeir syndrome type 2, cerebro-oculo-facio-skeletal syndrome, cerebrooculofacioskeletal syndrome.