Cerebro-oculo-facio-skeletal syndrome

Disease Overview

Cerebro-oculo-facio-skeletal (COFS) syndrome is a degenerative disorder that primarily involves the brain, eyes, and spinal cord.[1381] Affected individuals have mild to severe intellectual disability, severely reduced muscle tone (hypotonia), impaired reflexes, vision impairment, and involuntary eye movements. Children with COFS syndrome have distinctive facial features, including low-set ears, small eyes, small head size (microcephaly), and a small jaw (micrognathia). They may also have abnormalities of the skull, limbs, heart, and kidneys.[1383] Individuals with COFS syndrome are often diagnosed at birth. In many cases, the cause of the disorder is unknown. Some children with this condition have mutations in the ERCC1, ERCC2, ERCC5, or ERCC6 gene.[1381] When an individual has the features of COFS syndrome and a mutation in the ERCC6 gene, they are said to have Cockayne syndrome type II. COFS syndrome is inherited in an autosomal recessive manner.[1383] Most children with this condition do not live past age 5 years of age. Treatment involves supportive care and is based on an individual’s symptoms.[1381]

Synonyms

• Pena-Shokeir syndrome type 2
• COFS syndrome