Cockayne Syndrome

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.

Also Known As:

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

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Musculoskeletal Diseases: 83

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Bone Diseases: 2380

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Developmental Bone Diseases: 63

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Dwarfism: 680

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Cockayne Syndrome: 207

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Nervous System Diseases: 3414

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Neurodegenerative Diseases: 7363

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Nervous System Heredodegenerative Disorders: 24

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Cockayne Syndrome: 207

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Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 421

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Congenital Abnormalities: 9330

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Multiple Abnormalities: 120

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Cockayne Syndrome: 207

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Inborn Genetic Diseases: 549

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Dwarfism: 680

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Cockayne Syndrome: 207

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Nervous System Heredodegenerative Disorders: 24

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Cockayne Syndrome: 207

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Nutritional and Metabolic Diseases

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Metabolic Diseases: 1267

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DNA Repair-Deficiency Disorders: 67

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Cockayne Syndrome: 207

Dwarfism

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Disease Context: Research Results