1. Cockayne Syndrome cockayne syndrome is a rare inherited disorder in which people are sensitive tosunlight, have short stature and have the appearance of premature aging. http://www.ncbi.nlm.nih.gov/disease/Cockayne.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View CSA on chromosome 5 Databases PubMed the literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders EDWARD ALFRED COCKAYNE (1880-1956), after whom this disease is named, was a London physician who concentrated particularly on hereditary diseases of children. Cockayne syndrome is a rare inherited disorder in which people are sensitive to sunlight, have short stature and have the appearance of premature aging. In the classical form of Cockayne syndrome (Type I), the symptoms are progressive and typically become apparent after the age of one year. An early onset or congenital form of Cockayne syndrome (Type II) is apparent at birth. Interestingly, unlike other DNA repair diseases, Cockayne syndrome is not linked to cancer. After exposure to UV radiation (found in sunlight), people with Cockayne syndrome can no longer perform a certain type of DNA repair, known as 'transcription-coupled repair'. This type of DNA repair occurs 'on the fly', right as the DNA that codes for proteins is being replicated. Two genes defective in Cockayne syndrome, CSA and CSB, have been identified so far. The CSA gene is found on chromosme 5. Both genes code for proteins that interacts with components of the transcriptional machinery and with DNA repair proteins. Escherichia coli, a bacterium, also undergoes transcription-coupled repair, and a yeast counterpart of the CSB gene has also recently been discovered. These similar mechanisms to the one found in humans are invaluable for studying the molecular processes involved in transcription-coupled repair because powerful molecular genetics techniques can be used. A better understanding of the mechanisms involved will help unravel the pathogenesis of disease and may identify potential drug targets.

2. NORD - National Organization For Rare Disorders, Inc. Offers the synonyms, a general discussion and resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cockayne Synd

3. Cockayne Syndrome Homepage Share and Care Self Support group to provide information to families and professionals with an interest in cockayne syndrome (CS). Share and Care cockayne syndrome Network, Inc. Share and Care cockayne syndrome Network, Inc., http://www.cockayne-syndrome.org/

4. EMedicine - Cockayne Syndrome : Article By Suzanne M Carter, MS cockayne syndrome cockayne syndrome (CS) spans a spectrum that includes CS type 1, the classic form; CS type 2, a more severe form with symptoms present at birth (ie, cerebrooculofacial-skeletal http://www.emedicine.com/ped/topic424.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Cockayne Syndrome Last Updated: April 26, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: Cockayne syndrome type A, CS, CAS, excision-repair cross-complementing group 8, CKN1, cachectic dwarfism, growth failure, premature aging, pigmentary retinal degeneration, Cockayne syndrome type B, , CS type 1, CS type 2 AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Suzanne M Carter, MS , Senior Genetic Counselor, Associate, Department of Obstetrics and Gynecology, Division of Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine Coauthor(s): Susan J Gross, MD, FRCS(C), FACOG, FACMG , Codirector, Division of Reproduction Genetics, Associate Professor, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine Suzanne M Carter, MS, is a member of the following medical societies:

5. Cockayne Syndrome a CHORUS notecard document about cockayne syndrome Disclaimer. Feedback. Search. cockayne syndrome. type of dysmyelinating disease variant of PelizaeusMerzbacher disease. distinguish from Kearns-Sayre syndrome. CT findings http://chorus.rad.mcw.edu/doc/00090.html

CHORUS Collaborative Hypertext of Radiology Nervous system Feedback Search Cockayne syndrome type of dysmyelinating disease autosomal recessive onset usually within 2nd year (?) variant of Pelizaeus-Merzbacher disease distinguish from Kearns-Sayre syndrome CT findings: microcephaly basal ganglion calcification cerebral atrophy Charles E. Kahn, Jr., MD - 7 July 1995 Last updated 26 May 2004 Medical College of Wisconsin

6. EMedicine - Cockayne Syndrome : Article By Suguru Imaeda, MD cockayne syndrome cockayne syndrome is a rare autosomal recessive, heterogeneous,multisystem disorder characterized by dwarfism, progressive pigmentary http://www.emedicine.com/derm/topic717.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Cockayne Syndrome Last Updated: November 12, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: CS-I, CS-II, classic Cockayne syndrome, severe Cockayne syndrome, dwarfism, progressive pigmentary retinopathy, birdlike facies, photosensitivity AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Suguru Imaeda, MD , Chief of Health Services Dermatology, Clinical Associate Professor, Department of Dermatology, Yale University School of Medicine Suguru Imaeda, MD, is a member of the following medical societies: American Academy of Dermatology American Medical Association Connecticut State Medical Society Sigma Xi , and Society for Investigative Dermatology Editor(s): Jacek C Szepietowski, MD, PhD , Associate Professor, Department of Dermatology and Venereology, University of Medicine at Wroclaw, Poland; David F Butler, MD

7. Cockayne Syndrome / Family Village Library Search AltaVista for "cockayne syndrome" Who to Contact. Share and Care cockayne syndrome Network. P.O. Box 552 http://www.familyvillage.wisc.edu/lib_cock.htm

Cockayne Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Cockayne Syndrome" Who to Contact Share and Care Cockayne Syndrome Network P.O. Box 570618 Dallas, TX 75357 E-mail: J93082@aol.com Web: http://www.cockayne-syndrome.org/ This is an international network that was founded in 1981. It offers mutual support and networking for families affected by Cockayne Syndrome (cachectic dwarfism). This includes the sharing of information between families and professionals, maintaining a registry of families, and providing referral information, a newsletter, phone support, and pamphlets (which are available in English, Spanish and Japanese). Where to Go to Chat with Others Cockayne Syndrome Chat Room Learn More About It Cockayne Syndrome From Online Mendelian Inheritance in Man (OMIM) Cockayne Syndrome Cockayne's Syndrome Handbook Cockayne's Syndrome - from eMedicine Web Sites Share and Care Cockayne Syndrome Network Back to [ C - D Family Village Home Library Coffee Shop ... Information Last updated 4/13/2004 by familyvillage@waisman.wisc.edu

8. GeneReviews: Cockayne Syndrome Your browser does not support HTML frames so you must view cockayne syndromein a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/cockayne/

Your browser does not support HTML frames so you must view Cockayne Syndrome in a slightly less readable form. Please follow this link to do so.

9. Cockayne's Syndrome Handbook Cockayne's Syndrome Handbook. URL is http//members.aol.com/DBBusch/ shareandcare.cshandbook.html. version of 9 March 98 by David Busch initial draft of a handbook on Cockayne's syndrome (CS), modeled after "The Xeroderma Pigmentosum What is Cockayne's syndrome? Cockayne's syndrome (cockayne syndrome; CS) is a http://members.aol.com/DBBusch/shareandcare.cshandbook.html

Main Developmental htmlAdWH('7002568', '234', '60'); Cockayne's Syndrome Handbook URL is http://members.aol.com/DBBusch/shareandcare.cshandbook.html version of 9 March 98 by David Busch This is a rough initial draft of a handbook on Cockayne's syndrome (CS), modeled after "The Xeroderma Pigmentosum Handbook" by Mary Ellen Fitzgerald and Richard Ng; and "Understanding Xeroderma Pigmentosum" by Ken Kraemer. It is in need of editing, proofreading, and possibly some approvals before it is to be brought to the attention of the general public, but is being posted on the Internet at the above Web site address (URL) in order to facilitate access by persons being consulted about the Share and Care Home Page under revision at http://members.aol.com/DBBusch/shareandcarehome.html ( Share and Care Home Page ) . Please E-mail comments to DBBusch@aol.com. THE COCKAYNE'S SYNDROME HANDBOOK What is Cockayne's syndrome? Cockayne's syndrome (Cockayne syndrome; CS) is a rare and devastating genetic disease. It is present in about 1/100,000 live births. Its inheritance is autosomal recessive. In other words, it occurs if both the father and the mother pass on a damaged gene to the affected child, with the parents themselves having no health problems related to CS, and with 1/4 of the siblings expected to also have CS. CS may be diagnosed if both of the following major criteria and three of the five minor criteria are met: MAJOR CRITERIA: 1. Height below fifth percentile for age and sex.

10. Cockayne Syndrome Genes and Disease PDF Document Muscle and Bone cockayne syndrome An early onsetor congenital form of cockayne syndrome (Type II) is apparent at birth. http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.sect

11. What Is Cockayne Syndrom Homepage (CockayneSyndrome.org). What is cockayne syndrome? What is cockayne syndrome? Wheredoes the name come from? Go to Top. What is cockayne syndrome? http://www.cockayne-syndrome.org/English/US_What_is_CS.htm

What is Cockayne Syndrome? What is Cockayne Syndrome? What are the Characteristic Features of CS? CS Development over the years (pictures) How is CS Inherited? ... Where does the name come from? What is Cockayne Syndrome? Cockayne Syndrome (CS) is a rare form of dwarfism. It is genetic and recessively inherited. CS type I or classic CS is the most common form in which the first year of life is basically normal with the onset of symptoms in the second year of life. With CS type II or early-onset CS, the symptoms are displayed within the first year. A mild form of CS has been identified in which children have only a few characteristics. What are the Characteristic Features of CS? The following is a list of the most common characteristics noted in reported cases of CS. No one child will necessarily have all the features listed. Normal first year with onset of symptoms in the second year Dwarfism Microcephaly (small head) Neurodevelopmental delay (progressive) Mental deficiency (progressive) Unsteady gait Sunburns easily Retinopathy and/or cataracts (progressive) Hearing loss (progressive) Dental caries Typical facial appearance: Pinched facies Sunken eyes Beaked nose Prognathism (projecting jaw) Loss of subcutaneous fat Premature aging Shortened lifespan CS-Development over the Years Pictures from Baptiste provided by his father Eric Bixel , France.

12. Pediatric Database A definition of cockayne syndrome, the epidemiology, pathogenesis, pathology, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/COCKAYNE.HTM

13. Cockayne Syndrome Image that s a link to Genetics Education Center Support Page Cockaynesyndrome. Share and Care cockayne syndrome Network Inc. PO http://www.kumc.edu/gec/support/cockayne.html

Cockayne syndrome Share and Care Cockayne Syndrome Network Inc. P.O. Box 570618 Dallas, TX 75357 USA Phone:1 866-cockayne (Toll free) Fax: 001 (972) 613-4590 E-mail: J93082@aol.com Web page: http://www.cockayne-syndrome.org/ Also See: National organizations , genetic conditions / birth defects resources To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised February 22, 2002 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

14. COCKAYNE SYNDROME Features Listed For cockayne syndrome. McKusick 216400. Absent or sparsetears; Acetabulum, general abnormalities; Ataxia; Autonomic dysfunction; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?326

15. What Is Cockayne Syndrome? What is cockayne syndrome? cockayne syndrome (Cockayne s syndrome; CS)is a rare genetic disease with autosomal recessive inheritance http://members.aol.com/DBBusch/shareandcare.whatisCS.html

Main Developmental htmlAdWH('7002568', '234', '60'); What is Cockayne syndrome? Cockayne syndrome (Cockayne's syndrome; CS) is a rare genetic disease with autosomal recessive inheritance, meaning that the disease is inherited by an expected 1/4 of the children of apparently healthy parents. It is seen in about 1/100,000 live births, and affects all ethnic groups. Among the problems encountered in CS are: developmental delay, extremely short stature, poor weight gain, poor feeding, premature aging, extreme sunsitivity to sunlight and to other UV sources, cataracts (12 year life expectancy if present at birth), pigmentary retinopathy (retinitis pigmentosum) and blindness, "nerve" (sensorineural) deafness, severe tooth decay, and calcium deposits in the brain. CS patients tend to have faces with small chins, prominent and pointed noses, and ears that are unusually large for the head size. Their eyes tend to be sunken as one result of their abnormally low body fat, including under the skin on the face and elsewhere. To go to home page, click here.

16. Cockayne Syndrome - Information / Diagnosis / Treatment / Prevention home neurological disorders neurodegenerative diseases cockayne syndromecockayne syndrome. Information • Diagnosis • Treatment • Prevention. http://www.healthcyclopedia.com/neurological-disorders/neurodegenerative-disease

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... neurodegenerative diseases > cockayne syndrome Cockayne Syndrome Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News Web Directory: Related Topics: Genetic Disorders Rare Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "cockayne syndrome" Health News: Search millions of published articles for news on Cockayne Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Cockayne Syndrome Genes and disease provides a short description of this inherited disorder. NORD: Cockayne Syndrome Offers the synonyms, a general discussion and resources. Pediatric Database A definition of cockayne syndrome, the epidemiology, pathogenesis, pathology, clinical features, investigations and management.

17. Cockayne Syndrome Internet links on cockayne syndrome. Elsewhere on the Web. cockayne syndrome.I am your Guide, From Mary Kugler, Your Guide to Rare / Orphan Diseases. http://rarediseases.about.com/library/weekly/aa032203a.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Home Essentials ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Email to a friend Print this page Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. Suggested Reading Internet links on Cockayne syndrome Elsewhere on the Web NCBI: Cockayne Syndrome Most Popular The Elephant Man's Bones Reveal Mystery ALD and Lorenzo's Oil Prune Belly (Eagle-Barrett) Syndrome Progeria Syndromes ... Mad Cow Disease and Humans What's Hot Christmas Disease Graves' Disease and Research Dystonia and Botox Injections Tourette Syndrome ... Ferraro Fighting Multiple Myeloma Cockayne Syndrome From Mary Kugler Your Guide to Rare / Orphan Diseases Sign up for my Newsletter Affects many body systems What is it?

18. Cockayne Syndrome cockayne syndrome Important It is possible that the main title of thereport cockayne syndrome is not the name you expected. Please http://my.webmd.com/hw/health_guide_atoz/nord176.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Cockayne Syndrome Important It is possible that the main title of the report Cockayne Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms CS Deafness-Dwarfism-Retinal Atrophy Dwarfism with Renal Atrophy and Deafness Neill-Dingwall Syndrome Progeroid Nanism Disorder Subdivisions Classical Form, Cockayne Syndrome Type I (Type A) Congenital Form, Cockayne Syndrome Type II (Type B) Late Onset, Cockayne Syndrome Type III (Type C) General Discussion Cockayne Syndrome (CS) is a rare form of dwarfism. It is an inherited disorder whose diagnosis depends on the presence of three signs (1) growth retardation, i.e. short stature, (2) abnormal sensitivity to light (photosensitivity), and (3) prematurely aged appearance (progeria). In the classical form of Cockayne Syndrome (CS type I) the symptoms are progressive and typically become apparent after the age of one year. An early onset or congenital form of Cockayne Syndrome (CS type II) is apparent at birth (congenital). There is a third form, known as Cockayne Syndrome Type III (CS type III), that presents later in the child’s development and is generally a milder form of the disease. A fourth form; now recognized as Xeroderma pigmentosa-Cockayne syndrome (XP-CS), combines features of both of these disorders.

19. Cockayne Syndrome Share and Care cockayne syndrome Network. cockayne syndrome Share andCare cockayne syndrome Network International network. Founded 1981. http://my.webmd.com/hw/raising_a_family/shc29coc.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... Share and Care Cockayne Syndrome Network Cockayne Syndrome Share and Care Cockayne Syndrome Network International network. Founded 1981. Mutual support and networking for families affected by Cockayne syndrome (cachectic dwarfism). Sharing of information between families and professionals. Maintains registry of families. Information and referrals, newsletter, phone support. Pamphlet available in English, Spanish, German, Portuguese and Japanese. WRITE: Share and Care Cockayne Ntwrk. c/o Shirly Rodriguez P.O. Box 570618 Dallas, TX 75357 CALL: 972-613-6273 FAX: 972-613-4590 E-MAIL: J93082@aol.com WEBSITE: http://www.cockayne-syndrome.com VERIFIED: 4/11/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

20. Cockayne Syndrome cockayne syndrome (CS) is a rare form of dwarfism. It prematurel. NationalOrganization for Rare Disorders, Inc. cockayne syndrome. http://www.bchealthguide.org/kbase/nord/nord176.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord176"; var hwDocTitle="Cockayne Syndrome"; var hwRank="1"; var hwSectionHWID="nord176"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Cockayne Syndrome Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms CS Deafness-Dwarfism-Retinal Atrophy Dwarfism with Renal Atrophy and Deafness Neill-Dingwall Syndrome Progeroid Nanism Disorder Subdivisions Classical Form, Cockayne Syndrome Type I (Type A) Congenital Form, Cockayne Syndrome Type II (Type B) Late Onset, Cockayne Syndrome Type III (Type C) Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Hutchinson Gilford Syndrome Seckel Syndrome Laron Dwarfism General Discussion Symptoms The symptoms of all forms of Cockayne Syndrome are similar. The different types of the disease are defined by the age of the onset.

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