Cockayne Syndrome (page 3)
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?
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.
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.
- NIH Publications - National Institutes of Health (2 links)
- MedlinePlus - Health information (4 links)
- Educational resources- Information pages (3 links)
- Patient support- For patients and families (4 links)
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
- OMIM - Genetic disorder catalog (4 links)
What other names do people use for Cockayne syndrome?
- 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?
- See How can I find a genetics professional in my area? in the Handbook.
- Ask the Genetic and Rare Diseases Information Center.
- Submit your question to Ask the Geneticist.
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
- What does it mean if a disorder seems to run in my family?
- What are the different ways in which a genetic condition can be inherited?
- If a genetic disorder runs in my family, what are the chances that my children will have the condition?
- Why are some genetic conditions more common in particular ethnic groups?
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.
References (7 links)
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.
Reprinted with the permission of the National Institute of Mental Health. © 2008 NIMH.
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