COFS syndrome

Definition

Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.

Also known as Cerebro Oculo Facio Skeletal Syndrome, cerebro-oculo-facio-skeletal syndrome, cerebrooculofacioskeletal syndrome, COFS, Pena-Shokeir syndrome type 2 — per MONDO

Also identified as

• DOID 0080910 per MONDO
• NCIT C3817 per MONDO
• Orphanet 1466 per MONDO
• UMLS C5399761 per MONDO