Cockayne syndrome type II
Other Names for this Disease
- Cockayne syndrome type B
- Pena Shokeir syndrome type 2
- Pena-Shokeir syndrome type 2
- Cerebrooculofacio-skeletal syndrome 1
- COFS 1
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progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities. Cockayne syndrome type 1 (type A) is sometimes called “classic” or "moderate" Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the “severe” or "early-onset" type. This more severe form presents with growth and developmental abnormalities at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood.Cockayne syndrome is a rare condition which causes short stature, premature aging (
Last updated: 10/26/2015
- Cockayne Syndrome Brochure. Share & Care Cockayne Syndrome Network. 2008; http://cockaynesyndrome.net/main/AboutCS.aspx. Accessed 10/26/2015.
- Genetics Home Reference. Cockayne Syndrome. May 2010; http://ghr.nlm.nih.gov/condition/cockayne-syndrome. Accessed 10/26/2015.
- Laugel V. Cockayne Syndrome. Gene Reviews. June 14, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1342/. Accessed 10/26/2015.
- Genetics Home Reference (GHR) contains information on Cockayne syndrome type II. This website is maintained by the National Library of Medicine.
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