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What is Cockayne Syndrome?
Cockayne Syndrome (CS) is a rare genetic disorder characterized by poor growth, microcephaly, progeria (premature aging), sensitivity to sunlight, moderate to profound developmental and neurological delays, and a shortened lifespan. CS is inherited in an autosomal recessive pattern. In order for a child to be affected by CS, he or she must inherit a mutation (-) in the same CS gene from both parents. The parents and other “carriers” of a single CS gene mutation remain healthy. Once a couple are known to carriers, they have a 1 in 4 (25%) chance of having another child with CS
The symptoms of Cockayne syndrome vary significantly, especially with regard to their age of onset and rate of progression. The resulting spectrum of severity can be imperfectly divided into three “types” of CS:
CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities around one year of age. The typical lifespan is ten to twenty years of age. CS type II is characterized by growth failure and other abnormalities at birth, with little or no postnatal neurologic development. The typical lifespan is up to seven years. CS type III is characterized by a later onset, lesser symptoms, and/or a slower rate of progression.. The expected lifespan is unclear, but can extent to forty or fifty years of age.
Some individuals have combined features of Cockayne syndrome and Xeroderma Pigmentosum, which is characterized by a wide range of skin changes, from mild freckling to skin cancer on areas exposed to sunlight.
What Genes are Related to CS?
Mutations in the ERCC6 (CSB) or ERCC8 (CSA) genes cause Cockayne syndrome. The ERCC6 and ERCC8 genes provide instructions for making two proteins, called CSB and CSA, which are involved in repairing DNA. If either gene is altered, DNA damage is not as 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.
Research and genetic testing for CS is being conducted by Dr. Edward G. Neilan, M.D., Ph.D., Staff Physician, Division of Genetics, Children’s Hospital Boston. Email email@example.com or phone (617) 919-2671.
Treatment and Management of CS
No specific treatment currently exists for CS. Patients should be treated according to the symptoms they have. Physical, occupational, speech, vision, and hearing therapy are most often beneficial.
CS Characteristics and Diagnosis
The following is a list of the most common characteristics noted in reported cases of CS. No child will necessarily have all the characteristics listed, and some of these findings are progressive.
• Social, jovial personalities
• Sunburns easily
• Progeria (premature aging)
• Shortened life span
• Neurodevelopment delay
• Short stature (height <5th percentile)
• Unsteady gait
• Rounded back
• Deep set eyes, small slender straight nose
• Dental caries (cavities)
• Retinopathy and/or cataracts
• Hearing loss
• Poor circulation (cold hands and feet
• Low body temperature
• Feeding problems
• Sleeping with eyes open
• White matter abnormalities
• Basal ganglia calcifications
• Liver abnormalities; elevated liver enzymes
• Severe itchiness
Cockayne syndrome is diagnosed by clinical findings including postnatal growth failure and progressive neurologic dysfunction along with other characteristics. Diagnosis should include molecular genetic testing. Contact Dr. Edward Neilan for more information.
Where did the name Cockayne Syndrome come from?
Edward Alfred Cockayne (1880-1956), after whom this disease is named, was a london physician who concentrated particulalry on hereditary diseases of children.
Edward Alfred Cockayne was educated at Charterhouse School and Balliol College, University of Oxford, where he excelled in the natural sciences. He was an intern at the St. Bartholomew’s Hospital, London, and qualified in medicine in 1907. Cockayne became a member of the Royal College of Physicians in 1909, fellow in 1916, and in 1912 received his doctorate from the University of Oxford.
During World War I Cockayne served in the Royal Navy and was at Archangel during the Russian revolution. After demobilisation in 1919 he was outpatient physician at the Middlesex Hospital and the Hospital for Sick Children, Great Ormond Street, becoming full physician at these hospitals in 1924 and 1934, respectively. He remained at the Hospital for Sick Children for the rest of his career.
Cockayne combined paediatrics with general practice and was particularly interested in endocrinology and rare, genetic children’s diseases - the latter was to become a lifelong interest in hereditary diseases, and in 1933 he published his monograph Inherited Abnormalities of the Skin and its Appendages. This was the first book to be exclusively concerned with the genodermatoses and it contained numerous pedigrees which had been culled from the literature. Cockayne’s stated purpose in writing the book was to draw the attention of dermatologists and geneticists to this potentially fruitful field of research.
Cockayne was a bird-like, slightly built man with an unpredictable temper. He was widely acknowledged as a superb diagnostician but had little interest in treatment or undergraduate teaching. was a bachelor and it is said that he had many acquaintances and admirers but no close friends.
Cockayne's great interest besides his medical work was in entomology. He built up a massive collection of butterflies and moths and in 1943 became president of the Royal Society of Entomology. After his retirement in 1947 he transferred his collection of insects from his flat to the Walter Rothschild Zoological Museum at Tring, Hertfordshire, 33 miles from London, where he became assistant curator. His name is perpetuated in the Cockayne Suite at the Royal Society of Medicine. For his service to entomology he was awarded the Order of the British Empire .
Brain and Tissue Bank For Developmental Disorders
The Brain and Tissue Bank for Developmental Disorders provides a great service with the human tissue repository for the study of childhood disorders. The Bank is a way for families to make the greatest gift possible to further medical research.
It is not the policy of the Bank to make the initial contact with the family, so it is important to contact the Bank to register well in advance of the time of death to insure a successful donation. There is no financial cost to the family and the Bank is available by phone to talk to anyone wanting more information without any obligation to register.
The Bank will coordinate tissue recovery and inform researchers of the availability of tissue. The credentials of the researcher will be screened and the recommendations of the Share and Care Cockayne Syndrome Network, Inc. will be considered before tissue distribution is made.
For more information, contact:
Sally Wisniewski, Project Coordinator
University of Maryland at Baltimore
Brain and Tissue Bank for Developmental Disorders
655 West Baltimore Street
Baltimore, MD 21201-1559
Brain and Tissue Bank Website
Other information on CS
Article on CS
Summary of CS by Johns Hopkins University