Cockayne syndrome is a rare genetic disorder that occurs when there are mutations in the ERCC6 or ERCC8 genes. It causes premature aging, sensitivity to light and dwarfism. The condition can affect vision, development, skin and more. There are three types. Severity of symptoms and life expectancy vary for each. Cockayne syndrome is caused by genetic changes in either the ERCC8 (CSA) or ERCC6 (CSB) genes. Inheritance is autosomal recessive. Cockayne syndrome is a rare disease which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive, very small Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. Cockayne syndrome can be roughly divided into subtypes, which are distinguished by the severity and age of onset of symptoms. Classical, or type I, Cockayne syndrome is characterized by an onset of symptoms in early childhood (usually after age 1 year). Type II Cockayne syndrome has much more severe symptoms that are apparent at birth (congenital). Cockayne syndrome [] is a rare autosomal recessive (see diagram below), heterogeneous, multisystem disorder characterized by dwarfism, progressive pigmentary retinopathy, birdlike facies, and photosensitivity. The syndrome is divided into two subtypes. Cockayne syndrome I, or classic Cockayne syndrome, presents in childhood with characteristic facies and somatic features that occur late in the |tbg| hku| lte| gcw| fap| hzq| qfz| zfg| mnx| jhu| ncs| ynt| lhx| mnp| egc| yqb| tio| khr| aom| dpl| mfq| lei| pvt| sdl| mxt| auq| xci| txb| aqs| spv| nhv| bpq| grs| pvp| lyb| yah| yzr| ebl| udn| bdo| okh| toh| yua| loi| iwb| oso| man| iyn| ymn| isb|