Cockayne Syndrome

Overview

Helpful information about Cockayne Syndrome. To learn more about this topic, click the World Articles tab. To find experts on this topic, click the Find Experts tab. To find books and DVDs you can purchase, click the Books & DVDs tab.

Is a:

Disease or Syndrome

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. Caused by mutations of gene ercc6. Type C is a rare form. Its genetic defect is not clear; appears to be a heterogeneous group. omim suggests that Type C should not be used anymore. Caused by mutations of gene ckn1.

Synonyms:

Cockayne Syndrome, Group A
Cockayne Syndrome, Group B
Cockayne Syndrome, Group C
Cockayne Syndrome, Type A
Cockayne Syndrome, Type B
Cockayne Syndrome, Type C
Cockayne Syndrome, Type I
Cockayne Syndrome, Type II
Cockayne Syndrome, Type III
Group A Cockayne Syndrome
Group B Cockayne Syndrome
Group C Cockayne Syndrome
Progeria Like Syndrome
Progeria-Like Syndrome
Syndrome, Cockayne
Syndrome, Progeria-Like
Type A Cockayne Syndrome
Type B Cockayne Syndrome
Type C Cockayne Syndrome
Type I Cockayne Syndrome
Type II Cockayne Syndrome
Type III Cockayne Syndrome

Broader Topics:

Narrower Topics:

None

Possibly Related Topics:

List of topics based on word similarity