Cockayne Syndrome Gene Reviews

Description: Disease characteristics. Cockayne syndrome (referred to as CS throughout this GeneReview) spans a spectrum that includes: CS type I, the "classic" form; CS type II, a more severe form with symptoms present at birth [also known as cerebro-oculo-facial syndrome (COFS) or Pena-Shokeir syndrome type II]; CS type III, a milder form; and xeroderma pigmentosum-Cockayne syndrome (XP-CS). CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II, or "connatal" CS, is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age seven years. CS type III is characterized by essentially normal growth and cognitive development or by late onset. Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, short stature, and hypogonadism; XP-CS does not include skeletal involvement, the facial phenotype of CS, or CNS demyelination and calcifications.