Cockayne syndrome

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Cockayne syndrome
Classification and external resources
ICD-10	Q87.1
ICD-9	759.8
OMIM	216400 133540 216411
DiseasesDB	2907
eMedicine	ped/424
MeSH	D003057

Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall Syndrome) is a rare autosomal recessive^[1] congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.^[2]:575 Hearing loss and eye abnormalities (pigmentary retinopathy) are other common features, but problems with any or all of the internal organs are possible.

It is named after English physician Edward Alfred Cockayne (1880-1956). Neill-Dingwall syndrome was named after Mary M. Dingwall and Catherine A. Neill.^[3]

Contents 1 Forms of Cockayne syndrome 2 Genetics 3 Physical appearance 4 See also 5 External links 6 References

[edit] Forms of Cockayne syndrome

• CS Type I, the classic form, is characterized by normal fetal growth with the onset of abnormalities in the first two years of life. Impairment of vision, hearing, and the central and peripheral nervous system progressively degenerate until death in the first or second decade of life.
• CS Type II, otherwise known as connatal CS, involves very little neurological development after birth. Death usually occurs by age 7. This specific type has also been designated as COFS syndrome. ^[4][5] Having said that, COFS syndrome itself is subdivided into several conditions (COFS type 1,2, 3 (which is itself is associated with Xeroderma Pigmentosum) and type 4).^[6][7][8]
• CS Type III is rare and is characterized by late onset. It is milder than Type I and II.
• Xeroderma-pigmentosum-Cockayne syndrome (XP-CS) occurs when an individual also suffers from Xeroderma pigmentosum, another DNA repair disease. Some symptoms of each disease are expressed.

[edit] Genetics

Cockayne syndrome is classified genetically as follows:

Type	OMIM	Gene
A	216400	ERCC8
B	133540	ERCC6
C	216411	none known

Mutations in the ERCC6 and ERCC8 genes are the cause of Cockayne syndrome. The proteins made by these genes are involved in repairing damaged DNA via the transcription-coupled repair mechanism, particularly the DNA in active genes. If either the ERCC6 or the ERCC8 gene is altered, DNA damage is not repaired. As this damage accumulates, it can lead to malfunctioning cells or cell death.

[edit] Physical appearance

Small head size, short stature, sunken eyes, "aged" look.

[edit] See also

• Accelerated aging disease
• Biogerontology
• Degenerative disease
• Genetic disorder
• CAMFAK syndrome - thought to be a form (or subset) of Cockayne syndrome^[9]

[edit] External links

• Share and Care Cockayne Syndrome Network
• cockayne at NIH/UW GeneTests
• This article incorporates some public domain text from The U.S. National Library of Medicine
• 'Amy and Friends' - a friendly charity based in the UK supporting children with Cockayne Syndome

[edit] References

v • d • e Congenital abnormality · multiple abnormalities (Q87, 759.7) Craniofacial Acrocephalosyndactylia (Apert syndrome/Pfeiffer syndrome, Saethre-Chotzen syndrome, Carpenter syndrome, Sakati-Nyhan-Tisdale syndrome) other: Möbius syndrome · Goldenhar syndrome · Cyclopia Short stature Aarskog-Scott syndrome · Cockayne syndrome · Cornelia de Lange Syndrome · Dubowitz syndrome · Noonan syndrome · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz syndrome-Turner syndrome Limbs Adducted thumb syndrome · Holt-Oram syndrome · Klippel-Trénaunay-Weber syndrome · Nail-patella syndrome · Rubinstein-Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome · ectromelia (Sirenomelia) · VACTERL association Overgrowth Beckwith-Wiedemann syndrome · Sotos syndrome · Weaver syndrome Laurence-Moon-Bardet-Biedl Bardet-Biedl syndrome · Laurence-Moon syndrome Combined/other, known locus 3 (Zimmerman-Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) · 12 (Keutel syndrome, Timothy syndrome) · 15 (Marfan syndrome) · 19 (Donohue syndrome) Combined/other, unknown locus Ablepharon macrostomia syndrome · Fountain syndrome · Urban-Rogers-Meyer syndrome · Yunis-Varon syndrome

v • d • e Metabolic disease: DNA repair-deficiency disorder Thymine dimer Xeroderma pigmentosum MSI Hereditary nonpolyposis colorectal cancer Other Ataxia telangiectasia · Bloom syndrome · Cockayne syndrome · Fanconi anemia · Li-Fraumeni syndrome · Nijmegen breakage syndrome · Rothmund-Thomson syndrome · Severe combined immunodeficiency · Werner syndrome