Cockayne Syndrome

Cockaynes syndrom

Svensk definition

Ett syndrom som karakteriseras av flera systemmissbildningar inklusive kortvuxenhet, ljusöverkänslighet, för tidigt åldrande och hörselnedsättning. Det orsakas av mutationer hos ett antal autosomalt recessiva gener vilka kodar proteiner som involverar DNA-reparationsprocesser. Cockaynes syndrom klassificeras efter svårighetsgrad och debut. Typ I (klassisk; CSA) debuterar under det andra levnadsåret; typ II (ärftligt; CSB) debuterar med svåra symtom vid födelsen; typ III (xeroderma pigmentosum; XP) debuterar med milda symtom senare i barndomen.

Engelsk definition

A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Syndrome, Cockayne — Progeria-Like Syndrome — Progeria Like Syndrome — Progeria-Like Syndromes — Syndrome, Progeria-Like — Progeroid Nanism — Dwarfism-Retinal Atrophy-Deafness Syndrome — Cockayne Syndrome, Type II — Type II Cockayne Syndrome — Group B Cockayne Syndrome — Type B Cockayne Syndrome — Cockayne Syndrome, Group B — Cockayne Syndrome, Type B — Cockayne Syndrome, Type III — Cockayne Syndrome Type C — Type III Cockayne Syndrome — Cockayne Syndrome, Type C — Group C Cockayne Syndrome — Type C Cockayne Syndrome — Cockayne Syndrome Type 3 — Cockayne Syndrome, Group C — Cockayne Syndrome, Type I — Type I Cockayne Syndrome — Group A Cockayne Syndrome — Type A Cockayne Syndrome — Cockayne Syndrome, Group A — Cockayne Syndrome, Type A