What is the definition of Pena-Shokeir Syndrome Type 2?

Cerebro-oculo-facio-skeletal (COFS) syndrome is a degenerative disorder that primarily involves the brain, eyes, and spinal cord. 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. 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. 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. 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.

What are the alternative names for Pena-Shokeir Syndrome Type 2?

  • COFS syndrome
  • Pena-Shokeir syndrome type 2

What are the causes for Pena-Shokeir Syndrome Type 2?

Mutations in the ERCC1, ERCC2, ERCC5, and ERCC6 genes have been found to cause some cases of COFS syndrome. These genes provide instructions for making proteins that are involved in repairing damaged DNA. If any of these genes are altered, DNA damage is not rapidly repaired. As a result, damaged DNA accumulates, which probably leads to impaired cell functions and eventually, cell death. It remains unclear how mutations in these genes lead to the signs and symptoms of COFS syndrome. In many people, the cause of the disorder is unknown. Mutations in one or more as-yet unidentified genes may be responsible for the disorder in these cases.

What are the current treatments for Pena-Shokeir Syndrome Type 2?

Treatment for COFS syndrome involves supportive care and is based on an individual's symptoms. People with this condition often require a feeding tube to obtain adequate nutrition.

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