Cockayne syndrome (or "Weber-Cockayne syndrome", or "Neill-Dingwall Syndrome") is a rare disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. Hearing loss and eye abnormalities are other common features, but problems with any or all of the internal organs are possible. Cockayne syndrome is inherited in an autosomal recessive pattern.
Forms of Cockayne syndrome
- CS Type I, or 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.
- CS Type III is rare and is characterized by late onset. It is milder than Type I and Type II.
- Xeroderma-pigmentiosum-Cockayne syndrome (XP-CS) occurs when an individual also suffers from Xeroderma pigmentosum, another DNA repair disease. Some symptoms of each disease are expressed.
The condition is also classified genetically as follows:
- (TYPE A)
- (TYPE B)
- (TYPE C)
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NORD: Cockayne Syndrome - Offers the synonyms, a general discussion and resources.
Meta Description: [ National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. ]
Share and Care Cockayne Syndrome Network, Inc. - Support group provides detail about this condition, including research and news to families and professionals. Available in a number of languages.
Meta Description: [ Share and Care Self Support group to provide information to families and professionals with an interest in Cockayne Syndrome (CS). ]