Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.


Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Cockayne syndrome

Other Names for this Disease
  • Cockayne's syndrome
  • Dwarfism-retinal atrophy-deafness syndrome
  • Progeria-like syndrome
  • Progeroid nanism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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