21. CdLs UK And Ireland University funded by a lottery grant from The Community Fund have ended a 15year search for the gene that causes the rare cornelia de lange syndrome. (CdLS). http://www.cdls.org.uk/

Information Centre Facts and basic information about the CdLS syndrome Background Articles about CdLS, growth charts and pictures Diagnostic and Treatment Protocols Medical information relating to the syndrome Email the Scientific Advisory Council, Reaching Out UK RESEARCHERS DISCOVER GENE THAT CAUSES RARE DISORDER A team of researchers from Newcastle University funded by a lottery grant from The Community Fund have ended a 15-year search for the gene that causes the rare Cornelia de Lange Syndrome. (CdLS). Site designed and maintained by Trident Communications

22. CdLs UK And Ireland Why is it called cornelia de lange syndrome? The syndrome is named after a famous professor of Paediatrics who worked in Amsterdam over 60 years ago. http://www.cdls.org.uk/information/3.htm

Why is it called Cornelia de Lange Syndrome? The syndrome is named after a famous professor of Paediatrics who worked in Amsterdam over 60 years ago. In 1933 she published a paper describing two children with the syndrome. Although these two girls were not related their facial features were so similar that both Professor de Lange and her nursing staff thought that they were the same child. A few years later she described another child with the same facial features as the first two children. There are now hundreds of cases of the syndrome recorded in the medical literature. What does the word syndrome mean? What are the features that go together to make Cornelia de Lange Syndrome? Why is it called Cornelia de Lange Syndrome? Are there other names for the syndrome? ... Is there any research being carried out on the syndrome? Site designed and maintained by Trident Communications

23. Education Protocol For Cornelia De Lange Syndrome Education Protocol for cornelia de lange syndrome. Mary Families may struggle to accept the diagnosis of cornelia de lange syndrome. Shock http://www.tsbvi.edu/Outreach/seehear/winter00/cornelia.htm

Home Site TOC Site Search Outreach ... Winter 2000 Table of Contents Education Protocol for Cornelia de Lange Syndrome Mary T. Morse, Ph.D., Special Education Consultant, Pembroke, New Hampshire Editor s note: Recently I visited the Cornelia de Lange Foundation, Inc. website in search of information for a classroom teacher. I came across this wonderful article, one of the many interesting things available at this site. I would encourage families and professionals who want to learn more about CdLS to visit this site if they haven http://cdlsoutreach.org Cornelia de Lange Syndrome (CdLS) has great variability in its manifestation, from those individuals who are visually recognizable as having CdLS to those who, to the uninitiated observer, display no unusual physical and/or behavioral characteristics. A common characteristic, however, is that numerous infants, preschool and school-age children with CdLS have a range of significant medical and health issues that consume parental physical, emotional and financial energy and the attention of numerous professional disciplines. Many children diagnosed with CdLS also present another set of concerns, namely in the area of communication and behavior. Planning and providing appropriate quality educational services for children who have CdLS must consider the influence and interplay of both sets of issues and concerns. Education is a cultural activity with schools charged to prepare children for the life they will lead in the culture they will live. Education can be thought of as the other side of the coin from the medical and health-related issues and, as such, needs to be addressed simultaneously.

24. Cornelia De Lange Syndrome Conference cornelia de lange syndrome Conference. cornelia de lange syndrome (CdLS) is a genetic disorder that causes mental, physical, and developmental delays. http://www.tsbvi.edu/Outreach/seehear/fall98/cornelia.htm

Go to Fall 1998 Table of Contents. Cornelia de Lange Syndrome Conference By Gwen Solis, Parent, San Antonio, Texas Cornelia de Lange Syndrome (CdLS) is a genetic disorder that causes mental, physical, and developmental delays. Each year families and professionals come together from all over the world for a weekend full of informative workshops, sibling activities, parental bonding and lots of food and fun! This year is the 20th Annual International Conference for the families of children with Cornelia de Lange Syndrome. Our conference will be held at the beautiful Doubletree Hotel in Dallas, Texas from June 24-27, 1999. Each year, no matter where the conference is held, Girl Scout Troop 905/959 from Bogata, New Jersey, raise their own funds to come to the conference and provide loving childcare for the CdLS children, so their families can attend the conference and receive invaluable information. CdLS has its own Scientific Advisory Board. It consists of top medical professionals who specialize in CdLS and attend the conference each year. They range from geneticists, ophthalmologists, ENTs, gastroenterologists, psychologists, orthopedists, dentists, and more. This is always a memorable and important event. If you or anyone you know want to learn more about CdLS or the upcoming conference, please call the CdLS Foundation at (800) 223-8355.

25. Cornelia De Lange Syndrome Refer to conditions of use. cornelia de lange syndrome (Amsterdam Dwarf Syndrome). cornelia de lange syndrome (CDLS) is a multiple congenital anomaly syndrome. http://www.psychnet-uk.com/dsm_iv/cornelia_de_lange_syndrome.htm

26. NEWS FLASH THE cornelia de lange syndrome GENE IS IDENTIFIED A team of researchers at The Children s Hospital of Philadelphia (CHOP) and Newcastle University in the UK http://www.cdlsaus.org/

Home About CdLS Association Events ... Newsletter Sponsored by: Australian Maritime Systems What's New! All The Latest News!!!! NEWS FLASH THE CORNELIA DE LANGE SYNDROME GENE IS IDENTIFIED A team of researchers at The Children's Hospital of Philadelphia (CHOP) and Newcastle University in the UK have ended a 15 year search for the gene that causes Cornelia de Lange Syndrome. The findings, reported in Nature Genetics, identified a gene on chromosome 5. Members of the CdLS Association of Australasia are elated at these findings for various reasons: • It will provide accurate diagnosis • It will provide genetic testing for other family members, particularly siblings • It will provide accurate information and counselling resources for future pregnancies • It will enable care providers to understand the diagnosis of CdLS, improve existing therapies, and design new medical therapies • It will provide a greater understand the role the gene plays in development For more information visit www.cdlsworld.org

27. Welcome To The UC Davis Children S Hospital Cleft Craniofacial cornelia de lange syndrome is also sometimes referred to as CdLs for short or Brachmande Lange Syndrome. What causes cornelia de lange syndrome? http://www.ucdmc.ucdavis.edu/cleft/craniofacial/guide/about/corneliadelange.html

28. OMIM - CORNELIA DE LANGE SYNDROME 1; CDL1 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122470

29. Entrez PubMed cornelia de lange syndrome associated with cecal volvulus report of a case. Masumoto K, Izaki T, Arima T. Department of Pediatric http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

30. Cornelia De Lange Syndrome Information Diseases Database cornelia de lange syndrome,De Lange syndrome,Amsterdam dwarfism,Brachmanncornelia de lange syndrome, Disease Database Information. http://www.diseasesdatabase.com/ddb29651.htm

Diseases Database Index Sponsors Contact ... Previous Page Cornelia de Lange syndrome Information Search 4 synonyms or equivalents were found. Cornelia de Lange syndrome aka/or De Lange syndrome aka/or Amsterdam dwarfism aka/or Brachmann-Cornelia de Lange syndrome may cause or feature (Follow link for list) belong(s) to the category of (Follow link for list) Cornelia de Lange syndrome: Definition(s) via UMLS Code translations and terms via UMLS Cornelia de Lange syndrome: specific sites Send Cornelia de Lange syndrome to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-02 11:05:48 Metadata Updated 2004-05-22

31. Bbc.co.uk - Health - Illnesses And Conditions Cornelia De Lange Syndrome A guide to cornelia de lange syndrome, facts about the condition and where to go for support. cornelia de lange syndrome By Dr Trisha Macnair. http://www.bbc.co.uk/health/conditions/cornelia.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index WEDNESDAY 2nd June 2004 Text only BBC Homepage Health Home Lifestyle Home ... Conditions QUICK GUIDE A-Z Children's Ailments IN-DEPTH Addictions Allergies Arthritis Asthma ... Help Like this page? Send it to a friend! A-Z Illnesses and Conditions Cornelia de Lange Syndrome By Dr Trisha Macnair This syndrome encompasses characteristic physical features, developmental abnormalities and learning difficulty. Children with the syndrome are small at birth and remain small for their age. They are slow learners, although this symptom varies from mild to severe. Most will have limb abnormalities that range from small arms to complete absence of the forearms. Facial features include hirsutism (hairiness), thin eyebrows that often meet in the middle, long eyelashes, low set ears, widely spaced teeth, a short upturned nose and down-turned lips. Fits (seizures) are a common problem. 1 in 40,000 babies are born with the condition - about 38 each year in the UK. Cause is unknown - a genetic abnormality is suspected but has not yet been identified. Incidence is sporadic. It is likely that if a gene is involved it is a rare and random mutation. This mutant gene is almost never passed on to the next generation, as affected individuals seldom have children of their own - although there have been rare instances in which mildly affected individuals have also had children with the syndrome.

32. Cornelia De Lange Syndrome Articles, Support Groups, And Resources cornelia de lange syndrome articles, support groups, and resources for patients from Med Help International (www.medhelp.org). cornelia de lange syndrome. http://www.medhelp.org/HealthTopics/Cornelia_de_Lange_Syndrome.html

[Health Topics A-Z] A B C D ... Z Cornelia de Lange Syndrome Support Groups: Cornelia de Lange Syndrome Foundation, Inc. [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 6/2/2004

33. Open Directory - Search Results Back Home Next. cornelia de lange syndrome. Limb Anomalies cornelia de lange syndrome cornelia de lange syndrome Ring - A ring of http://www.ability.org.uk/Cornelia_de_Lange_Syndrome.html

Our Aims Services Stats ... Z Cornelia de Lange Syndrome Limb Anomalies - Cornelia de Lange Syndrome Cornelia de Lange Syndrome Ring - A ring of web sites dedicated to Cornelia de Lange Syndrome. Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

34. Cornelia De Lange Syndrome Forum cornelia de lange syndrome Forum. anna on May 11, 2004 adoption. sarah on May 13, 2004. cornelia de lange syndrome Gene is identified. Anonymous on May 17, 2004. http://www.network54.com/Forum/goto?forumid=8137

35. Cornelia De Lange Syndrome - Description And Links What is cornelia de lange syndrome (CdLS)? Further information is available from The cornelia de lange syndrome Foundation, Inc. http://www.isn.net/~jypsy/corndl.htm

What is Cornelia de Lange Syndrome (CdLS)? "Syndrome" is a medical term for a condition in which there is a collection of signs (observable body changes) and symptoms (problems related by the patient) recognizable by a doctor's exam. Although individuals with the syndrome may not have all of the signs and symptoms, they will have enough to be considered "diagnostic." Individual signs and symptoms may be seen in people without the syndrome. In 1933, Dr. Cornelia de Lange, a Dutch pediatrician, described two children with similar features. She is now generally credited with describing the collection of symptoms comprising the syndrome that bears her name. The syndrome is sometimes referred to as Brachmann-de Lange Syndrome, after Dr. W. Brachmann who described a similar patient in 1916. How can CdLS be recognized? As with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birthweight (usually, but not always, under five pounds), delayed growth and small stature, and small head size (microcephaly). Typical facial features include thin eyebrows which frequently meet at midline (synophrys), long eyelashes, short upturned nose and thin, downturned lips. Other frequent findings include excessive body hair (hirsutism), small hands and feet, partial joining of the second and third toes, incurved fifth fingers, gastroesophageal reflux, seizures, heart defects, cleft palate, bowel abnormalities, feeding difficulties, and developmental delay. Limb differences, including missing limbs or portions of limbs, usually fingers, hands or forearms, are also found in some individuals.

36. Cornelia De Lange Syndrome cornelia de lange syndrome Important It is possible that the main title of the report cornelia de lange syndrome is not the name you expected. http://my.webmd.com/hw/raising_a_family/nord30.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 ... For a Complete Report Cornelia de Lange Syndrome Important It is possible that the main title of the report Cornelia de Lange 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 BDLS Brachmann-de Lange Syndrome CdLS de Lange Syndrome Disorder Subdivisions None General Discussion In most individuals with the disorder, Cornelia de Lange syndrome appears to occur randomly for unknown reasons (sporadic). However, there have been some familial cases, suggesting autosomal dominant inheritance. According to investigators, the disorder may be caused by changes (mutations) of a gene or genes on the long arm (q) of chromosome 3 (3q26.3). Resources Children's Craniofacial Association 13140 Coit Road Dallas, TX 75240

37. Cornelia De Lange Syndrome - Medical Dictionary Definitions Of Popular Medical T MedicineNet Home MedTerms medical dictionary AZ List cornelia de lange syndrome. Advanced Search. http://www.medterms.com/script/main/art.asp?articlekey=13395

38. Syndrome, Cornelia De Lange - Medical Dictionary Definitions Of Popular Medical I was startled to find out that here was an article on the cornelia de lange syndrome written 17 years before de Lange s first paper of 1933. http://www.medterms.com/script/main/art.asp?articlekey=13394

39. TheFetus.net - Cornelia De Lange Syndrome -Philippe Jeanty, MD, PhD cornelia de lange syndrome. Philippe Jeanty, MD, PhD. 3 Wolland AM, Lindback T cornelia de lange syndrome and the woman behind the syndrome. http://www.thefetus.net/page.php?id=412

40. Gene Discovered For Cornelia De Lange Syndrome, A Disabling Genetic Disease Brachmannde Lange syndrome (www.whonamedit.com)Also known as Cornelia de Lange s syndrome,Brachmann-cornelia de lange syndrome,de Lange’s syndrome. Who named it? Home. List categories. Eponyms AZ. http://www.newshub.com/cgibin/rd.cgi?11956972

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