Cockayne Syndrome

What is Cockayne syndrome?

Cockayne syndrome is a rare disorder characterised by failure to grow, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. Hearing loss, eye abnormalities, and severe tooth decay are other common features. Problems with internal organs are also possible.

Cockayne syndrome can be divided into subtypes, which are distinguished by the severity and age of onset of symptoms. Classical, or type I, Cockayne syndrome is characterised by an onset of symptoms in early childhood (usually after the age of 1 year). Cockayne syndrome, type II is an early-onset form with severe symptoms that are apparent at birth (congenital). (Type II Cockayne syndrome is sometimes called cerebro-oculo-facio-skeletal syndrome, or COFS.) A few cases of type III Cockayne syndrome, which has mild symptoms and onset in late childhood, have been reported. Some individuals have combined features of Cockayne syndrome and another photosensitivity disorder called xeroderma pigmentosum, which is characterised by a wide range of skin changes, from mild freckling to skin cancer.

How common is Cockayne syndrome?

The prevalence of Cockayne syndrome is unknown. It probably occurs in fewer than 1 in 100,000 individuals.

What genes are related to Cockayne syndrome?

Mutations in the ERCC6 and ERCC8 genes cause Cockayne syndrome.

The proteins made by the ERCC8 and ERCC6 genes are involved in repairing damaged DNA, particularly the DNA in active genes. If either the ERCC8 or the ERCC6 gene is altered, DNA damage is not repaired. As damaged DNA accumulates, it can lead to malfunctioning cells or cell death, and the signs and symptoms of Cockayne syndrome.

How do people inherit Cockayne syndrome?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

What other names do people use for Cockayne syndrome?

  • CS
  • Dwarfism-retinal atrophy-deafness syndrome
  • Progeria-Like Syndrome
  • progeroid nanism

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