Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

27 entry terms
  • Dwarfism-Retinal Atrophy-Deafness Syndrome
  • Progeria-Like Syndrome
  • Progeroid Nanism
  • Progeria Like Syndrome
  • Progeria-Like Syndromes
  • Syndrome, Cockayne
  • Syndrome, Progeria-Like
  • 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
  • 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

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

1991(1981); use DWARFISM 1981-1990

MeSH Record

Previous Indexing

  • Dwarfism (1966-1980)
  • Photosensitivity Disorders (1966-1980)

MeSH Hierarchy

Tree Numbers

  1. C05w.116w.099.343w.250w
  2. C10w.574w.500.362w
  3. C16w.131w.077w.250w
  4. C16w.320w.240w.562w
  5. C16w.320w.400.200w
  6. C18.452w.284w.250w

AMA Style

References

  1. National Library of Medicine. Cockayne Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D003057. http://id.nlm.nih.gov/mesh/2026/D003057
  2. Cockayne Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Cockayne_syndrome
  3. Cockayne Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q914389