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

Musculoskeletal Diseases: 751
- Bone Diseases: 5970
  - Developmental Bone Diseases: 156
    - Dwarfism: 1206
      - Cockayne Syndrome: 481
Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Cockayne Syndrome: 481
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Cockayne Syndrome: 481
- Inborn Genetic Diseases: 12342
  - Dwarfism: 1206
    - Cockayne Syndrome: 481
  - Nervous System Heredodegenerative Disorders: 62
    - Cockayne Syndrome: 481
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - DNA Repair-Deficiency Disorders: 544
    - Cockayne Syndrome: 481

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