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Cockayne syndrome

MedGen UID:
40363
Concept ID:
C0009207
Disease or Syndrome
Synonyms: Cockayne's syndrome; Dwarfism-retinal atrophy-deafness syndrome; Progeria-like syndrome; Progeroid nanism
SNOMED CT: Cockayne syndrome (21086008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: ERCC6, ERCC8
 
Monarch Initiative: MONDO:0016006
Orphanet: ORPHA191

Disease characteristics

Excerpted from the GeneReview: Cockayne Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia). [from GeneReviews]
Authors:
Vincent Laugel   view full author information

Additional description

From MedlinePlus Genetics
Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. The signs and symptoms of this condition are usually apparent from infancy, and they worsen over time. Most affected individuals have an increased sensitivity to sunlight (photosensitivity), and in some cases even a small amount of sun exposure can cause a sunburn or blistering of the skin. Other signs and symptoms often include hearing loss, vision loss, severe tooth decay, bone abnormalities, hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans.

People with Cockayne syndrome have a serious reaction to an antibiotic medication called metronidazole. If affected individuals take this medication, it can cause life-threatening liver failure.

Cockayne syndrome is sometimes divided into types I, II, and III based on the severity and age of onset of symptoms. However, the differences between the types are not always clear-cut, and some researchers believe the signs and symptoms reflect a spectrum instead of distinct types. Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some researchers consider it to be a separate but similar condition, others classify it as part of the Cockayne syndrome disease spectrum.  https://medlineplus.gov/genetics/condition/cockayne-syndrome

Professional guidelines

PubMed

Bramwell LR, Harries LW
Geroscience 2024 Apr;46(2):1861-1879. Epub 2023 Sep 26 doi: 10.1007/s11357-023-00933-z. PMID: 37751047Free PMC Article
Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ
Neuroscience 2007 Apr 14;145(4):1388-96. Epub 2007 Feb 1 doi: 10.1016/j.neuroscience.2006.12.020. PMID: 17276014Free PMC Article
Rosell R, Taron M, Alberola V, Massuti B, Felip E
Lung Cancer 2003 Aug;41 Suppl 1:S97-102. doi: 10.1016/s0169-5002(03)00151-x. PMID: 12867068

Recent clinical studies

Etiology

Natale V, Raquer H
Orphanet J Rare Dis 2017 Apr 4;12(1):65. doi: 10.1186/s13023-017-0616-2. PMID: 28376890Free PMC Article
Karikkineth AC, Scheibye-Knudsen M, Fivenson E, Croteau DL, Bohr VA
Ageing Res Rev 2017 Jan;33:3-17. Epub 2016 Aug 6 doi: 10.1016/j.arr.2016.08.002. PMID: 27507608Free PMC Article
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. PMID: 24602044
Lehmann AR, McGibbon D, Stefanini M
Orphanet J Rare Dis 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. PMID: 22044607Free PMC Article
Suzumura H, Arisaka O
Adv Exp Med Biol 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19. PMID: 20687508

Diagnosis

Nakazawa Y, Hara Y, Oka Y, Komine O, van den Heuvel D, Guo C, Daigaku Y, Isono M, He Y, Shimada M, Kato K, Jia N, Hashimoto S, Kotani Y, Miyoshi Y, Tanaka M, Sobue A, Mitsutake N, Suganami T, Masuda A, Ohno K, Nakada S, Mashimo T, Yamanaka K, Luijsterburg MS, Ogi T
Cell 2020 Mar 19;180(6):1228-1244.e24. Epub 2020 Mar 5 doi: 10.1016/j.cell.2020.02.010. PMID: 32142649
Natale V, Raquer H
Orphanet J Rare Dis 2017 Apr 4;12(1):65. doi: 10.1186/s13023-017-0616-2. PMID: 28376890Free PMC Article
Karikkineth AC, Scheibye-Knudsen M, Fivenson E, Croteau DL, Bohr VA
Ageing Res Rev 2017 Jan;33:3-17. Epub 2016 Aug 6 doi: 10.1016/j.arr.2016.08.002. PMID: 27507608Free PMC Article
Marteijn JA, Lans H, Vermeulen W, Hoeijmakers JH
Nat Rev Mol Cell Biol 2014 Jul;15(7):465-81. doi: 10.1038/nrm3822. PMID: 24954209
Lehmann AR, McGibbon D, Stefanini M
Orphanet J Rare Dis 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. PMID: 22044607Free PMC Article

Therapy

Crochemore C, Cimmaruta C, Fernández-Molina C, Ricchetti M
Antioxid Redox Signal 2022 Jul;37(1-3):208-228. Epub 2022 Jan 4 doi: 10.1089/ars.2020.8242. PMID: 34428933
Stern-Delfils A, Spitz MA, Durand M, Obringer C, Calmels N, Olagne J, Pillay K, Fieggen K, Laugel V, Zaloszyc A
Eur J Med Genet 2020 Jan;63(1):103612. Epub 2019 Jan 7 doi: 10.1016/j.ejmg.2019.01.002. PMID: 30630117
Yew YW, Giordano CN, Spivak G, Lim HW
J Am Acad Dermatol 2016 Nov;75(5):873-882. doi: 10.1016/j.jaad.2016.03.044. PMID: 27745642
Brennan-Minnella AM, Arron ST, Chou KM, Cunningham E, Cleaver JE
Environ Mol Mutagen 2016 Jun;57(5):322-30. Epub 2016 Jan 14 doi: 10.1002/em.21995. PMID: 27311994
D'Errico M, Pascucci B, Iorio E, Van Houten B, Dogliotti E
Mech Ageing Dev 2013 May-Jun;134(5-6):261-9. Epub 2013 Apr 3 doi: 10.1016/j.mad.2013.03.006. PMID: 23562424

Prognosis

Tiwari V, Baptiste BA, Okur MN, Bohr VA
Nucleic Acids Res 2021 Mar 18;49(5):2418-2434. doi: 10.1093/nar/gkab085. PMID: 33590097Free PMC Article
Spitz MA, Severac F, Obringer C, Baer S, Le May N, Calmels N, Laugel V
Orphanet J Rare Dis 2021 Feb 3;16(1):63. doi: 10.1186/s13023-021-01686-8. PMID: 33536051Free PMC Article
Kubota M, Ohta S, Ando A, Koyama A, Terashima H, Kashii H, Hoshino H, Sugita K, Hayashi M
Pediatr Int 2015 Jun;57(3):339-47. doi: 10.1111/ped.12635. PMID: 25851792
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. PMID: 24602044
Lehmann AR, McGibbon D, Stefanini M
Orphanet J Rare Dis 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. PMID: 22044607Free PMC Article

Clinical prediction guides

Crochemore C, Chica C, Garagnani P, Lattanzi G, Horvath S, Sarasin A, Franceschi C, Bacalini MG, Ricchetti M
Aging Cell 2023 Oct;22(10):e13959. Epub 2023 Sep 8 doi: 10.1111/acel.13959. PMID: 37688320Free PMC Article
Vijayraghavan S, Saini N
Chem Res Toxicol 2023 Jul 17;36(7):983-1001. Epub 2023 Jun 26 doi: 10.1021/acs.chemrestox.3c00045. PMID: 37363863Free PMC Article
Tiwari V, Baptiste BA, Okur MN, Bohr VA
Nucleic Acids Res 2021 Mar 18;49(5):2418-2434. doi: 10.1093/nar/gkab085. PMID: 33590097Free PMC Article
Spitz MA, Severac F, Obringer C, Baer S, Le May N, Calmels N, Laugel V
Orphanet J Rare Dis 2021 Feb 3;16(1):63. doi: 10.1186/s13023-021-01686-8. PMID: 33536051Free PMC Article
Kubota M, Ohta S, Ando A, Koyama A, Terashima H, Kashii H, Hoshino H, Sugita K, Hayashi M
Pediatr Int 2015 Jun;57(3):339-47. doi: 10.1111/ped.12635. PMID: 25851792

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