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Genetic and Rare Diseases Information Center (GARD)

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Cockayne syndrome


Other Names for this Disease
  • Cockayne's syndrome
  • Dwarfism-retinal atrophy-deafness syndrome
  • Progeria-like syndrome
  • Progeroid nanism
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Your Question

I have a friend whose toddler son was diagnosed with Cockayne syndrome. I would really like some more information about this condition and the survival rate for his son.

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What is Cockayne syndrome?

Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay.[1] This syndrome also includes failure to thrive in the neonate, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities.[2]  Cockayne syndrome type 1 (type A) is sometimes called “classic” Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the “connatal” type.[3] This type is a more severe form in which growth and developmental abnormalities are present at birth.[2] The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations ineither the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern.[2] Individuals with type 1 or 2 usually do not survive past childhood, whereas those with type 3 live into adulthood.[1]
Last updated: 5/31/2011

What is the prognosis for Cockayne syndrome?

The prognosis for Cockayne syndrome varies by the disease type.[2] There are three types of Cockayne syndrome:   

Cockayne Syndrome Type 1 (type A) is marked by normal development until a child is 1 or 2 years old, at which point growth slows and developmental delays are noticed.[2] Life expectancy for type 1 is approximately 10 to 20 years.[1]

Cockayne syndrome type 2 (type B), also known as cerebro-oculo-facio-skeletal (COFS) and Pena-Shokeir syndrome type II, has severe symptoms present at birth and normal brain development stops after birth.[2] Average lifespan for children with type 2 is up to 7 years of age.[1]

Cockayne syndrome type 3 (type C) appears later in childhood with milder symptoms than the other types and a slower progression of the disorder.[2] Individuals with this type of Cockayne syndrome live into adulthood, with an average lifespan of 40 to 50 years.[1]
Last updated: 5/31/2011

References