What is Cockayne syndrome?
Cockayne syndrome is a rare disorder characterized by short stature and an
appearance of premature aging. Features of this disorder include a failure
to gain weight and grow at the expected rate (failure to thrive), small
head size (microcephaly), impaired development of the nervous system, and
an abnormal sensitivity to sunlight (photosensitivity). Other possible
signs and symptoms include hearing loss, eye abnormalities, severe tooth
decay, and problems with internal organs.
Cockayne syndrome can be divided into subtypes, which are distinguished by
the severity and age of onset of symptoms. Classical, or type I, Cockayne
syndrome is characterized by an onset of symptoms in early childhood
(usually after age 1 year). Cockayne syndrome, type II is an early-onset
form with severe symptoms that are apparent at birth (congenital). Type II
Cockayne syndrome is sometimes called cerebro-oculo-facio-skeletal (COFS)
syndrome or Pena-Shokeir syndrome type II. A few cases of type III Cockayne
syndrome, which has mild symptoms and onset in late childhood, have been
reported. Some individuals have combined features of Cockayne syndrome and
another photosensitivity disorder called xeroderma pigmentosum, which is
characterized by a wide range of skin changes, from mild freckling to skin
cancer.
How common is Cockayne syndrome?
The prevalence of Cockayne syndrome is unknown. It probably occurs in
fewer than 1 in 100,000 individuals.
What genes are related to Cockayne syndrome?
Mutations in the ERCC6 and ERCC8 genes cause Cockayne
syndrome.
The ERCC6 and ERCC8 genes provide instructions for making proteins that
are involved in repairing damaged DNA. If either gene is altered, DNA
damage is not rapidly repaired. As a result, damaged DNA accumulates, which
probably leads to impaired cell functions and eventually, cell death.
Increased cell death likely contributes to features of Cockayne syndrome
such as growth failure and premature aging.
How do people inherit Cockayne syndrome?
This condition is inherited in an autosomal recessive pattern, which means
two copies of the gene in each cell are altered. Most often, the parents of
an individual with an autosomal recessive disorder each carry one copy of
the altered gene but do not show signs and symptoms of the disorder.
Where can I find information about treatment for Cockayne syndrome?
These resources address treatment or management of Cockayne syndrome or
some of its symptoms.
You might also find information on treatment of Cockayne syndrome in
Educational resources and Patient support.
Where can I find additional information about Cockayne syndrome?
You may find the following resources about Cockayne syndrome helpful.
These materials are written for the general public.
You may also be interested in these resources, which are designed
for healthcare professionals and researchers.
- Gene
Reviews- Clinical summary
- Gene Tests- DNA tests ordered by healthcare
professionals (2 links)
- PubMed - Recent literature
- Online Books - Medical and science texts
Scriver's Online Metabolic and Molecular Bases of Inherited Disease
(OMMBID):Nucleotide Excision Repair Syndromes: Xeroderma Pigmentosum,
Cockayne Syndrome, and Trichothiodystrophy
- OMIM - Genetic disorder catalog (4 links)
What other names do people use for Cockayne syndrome?
- CS
- Dwarfism-retinal atrophy-deafness syndrome
- Progeria-Like Syndrome
- progeroid nanism
See How
are genetic conditions and genes named? in the Handbook.
What if I still have specific questions about Cockayne syndrome?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear
language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding Cockayne syndrome?
atrophy ; autosomal ;
autosomal recessive ; cancer ;
cataract ; cell ; congenital ; DNA ; DNA damage ; failure to thrive ; gene ; kyphoscoliosis ; microcephaly ; nervous system ; photosensitivity ; prevalence ; protein ; recessive ; sensitivity ; sign ; stature ; symptom ; syndrome
You may find definitions for these and many other terms in the Genetics
Home Reference Glossary.
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about a
personal genetic disease, syndrome, or condition should consult with a
qualified healthcare professional. See How can I find a genetics
professional in my area? in the Handbook.
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Reprinted with the permission of the National Institute of Mental Health. © 2008 NIMH.
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