21. Cornelia De Lange Syndrome cornelia de lange syndrome. cornelia de lange syndrome is a developmentalmalformation syndrome characterized by mental handicap, growth http://www.ntdlaboratories.com/cornelia_de_lange_syndrome.htm

Cornelia de Lange Syndrome Cornelia de Lange syndrome is a developmental malformation syndrome characterized by mental handicap, growth retardation, limb reduction abnormalities and distinctive facial features ( Opitz 1985 Ireland et al. 1993 Ireland, Current Paediatrics 1996;6:69-73 ). Congenital heart defects, gastro-oesophageal reflux and hearing impairment may also be present. There is no known specific biochemical or chromosomal abnormality associated with the syndrome, and diagnosis is dependent on the recognition of the characteristic phenotype and in particular the distinctive facial features with both classical and mild cases being recognized ( Die-Smulders et al. 1992 Ireland 1996 ). The incidence is estimated at around 1 in 40,000 ( Ireland 1996 ) with a recurrence risk of less than 1 percent ( Jackson et al. 1993 ). Despite this low recurrence risk parental anxiety in subsequent pregnancies is usually high. Prenatal diagnosis based on recognition of manifestations of the syndrome by ultrasonography is rarely achieved ( Bruner and Hsia, 1990

22. NetDoctor.co.uk - Support Groups , Cornelia de LangeSyndrome (CdLS) affects between one in every 40,000 and 100,000......cornelia de lange syndrome Foundation, http://www.netdoctor.co.uk/directory/support_groups/sg.asp?PID=406

23. Cornelia De Lange Syndrome Articles, Support Groups, And Resources cornelia de lange syndrome articles, support groups, and resources for patientsfrom 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: 3/30/2003

24. Cornelia De Lange Syndrome Foundation, Inc. cornelia de lange syndrome Foundation, Inc. International. Founded 1981. Providessupport and education to families affected by cornelia de lange syndrome. http://www.medhelp.org/amshc/amshc311.htm

Cornelia de Lange Syndrome Foundation, Inc. International. 2500+ member families. Founded 1981. Provides support and education to families affected by Cornelia de Lange syndrome. Supports research. Newsletter. Family album available for networking and mutual support. Annual convention. Professional network. Assistance in starting groups. Write: Cornelia de Lange Syndrome Foundation, 302 West Main St., Suite 100, Avon, CT 06001. Call 1-800-223-8355 or (860)676-8166; fax: (860)676-8337. - amsterdam dwarf syndrome of de lange brachmann-de lange growth disorder mailto:CDLSintl@iconn.net http://cdlsoutreach.org This information has been generously provided by The American Self Help Group Clearinghouse and hosted by Med Help International . Please send corrections/updates to info@selfhelpgroups.org Updated: 04/2002

25. Cornelia De Lange Syndrome Conference cornelia de lange syndrome Conference. cornelia de lange syndrome (CdLS) is agenetic 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.

26. Education Protocol For Cornelia De Lange Syndrome Winter 2000 Table of Contents. Education Protocol for cornelia de lange syndrome. Familiesmay struggle to accept the diagnosis of cornelia de lange syndrome. 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.

27. Cornelia De Lange Syndrome cornelia de lange syndrome. Information cornelia de lange syndromeInformation from NORD cornelia de lange syndrome information from http://www.communicationdisorders.net/corneliadelange.html

Cornelia de Lange syndrome Information Cornelia de Lange Syndrome information from OMIM Cornelia de Lange Syndrome information from Ped Base Web Sites Cornelia de Lange Syndrome Foundation Web Site Jessica's Place Amanda's Room Baylee's Home Page ... Kayla's (Prink) Web Site Chat Groups CDLS On-Line Parent Support Group Amanda's RoomChat Room link HOME

28. CdLs UK And Ireland Why is it called cornelia de lange syndrome? The syndrome is named after a famousprofessor 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

29. CdLs UK And Ireland Are there different types of cornelia de lange syndrome? Yes. Somechildren are much more severely handicapped by the syndrome than http://www.cdls.org.uk/information/5.htm

Are there different types of Cornelia de Lange Syndrome? Yes. Some children are much more severely handicapped by the syndrome than others with a wide variation from severe to mild. Many doctors now term the more severely affected as "Classical" and the milder as "Mild" de Lange Syndrome. 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

30. CdLS Online Support Group Copyright CdLS Online Support Group All rights reserved Contact us contact@cdlssupport.orgNot affiliated with the cornelia de lange syndrome Foundation. http://www.cdls-support.org/

"What the caterpillar thinks is the end of the world ...the butterfly knows is only the beginning." CdLS-KIDS Stay connected! Join our email discussion list. CdLS-AMIGOS Se habla espanol. CdLS-SIBLINGS Email group just for siblings. CdLS-Remembered Support for those who have lost a loved one with CdLS. CHAT Get in on the fun with our weekly chats. MESSAGE BOARD Visit our online discussion forum. CdLS FACTS Learn about CdLS. LINKS Links to CdLS home pages and other CdLS-related sites. NEW FAMILIES Letters of support for new CdLS families. INSPIRATION Stories and poems contributed by our members. MEMORIAL PAGE In loving memory of our CdLS angels. Parents sharing adaptive devices that work for their children w/CdLS. TEAM CdLS Raising awareness and funds for the CdLS Foundation. GUESTBOOK Please take a moment and sign our guestbook. Sign/View EMAIL Email us. GALLERY Photos of our kids. SUGGESTION BOX Got a suggestion, comment or question? Use this form! Contact us: contact@cdls-support.org Not affiliated with the Cornelia de Lange Syndrome Foundation Welcome to the Cornelia de Lange Syndrome (CdLS) Online Support Group . The group was started by several moms who met regularly online and realized how wonderful it was to have a convenient way of communicating. CdLS is rare enough that finding other parents in close proximity is not always feasible. Now, through this miracle of technology, we can connect with others who have much in common...wherever we may be in the world. We are no longer alone!

31. Cornelia De Lange Syndrome cornelia de lange syndrome (CDS). AKA de LangeSyndrome or Brachmannde Lange Syndrome. http://www.dpo.uab.edu/~birmie/cdl.htm

CORNELIA DE LANGE SYNDROME (CDS) AKA: de Lange Syndrome or Brachmann-de Lange Syndrome Definition Epidemiology Etiology Clinical Manifestations ... Reference Page Definition: a congenital disorder characterized by the symptoms listed below. Epidemiology: Variable estimates include 1 in 10,000-60,000 newborns. Affects males and females equally and shows no geographic dominance. Etiology Most cases are sporadic, but research suggests that some cases involve a genetic component either autosomal recessive or autosomal dominant. The genetic component being possibly a duplication in the 3rd chromosome. Clinical Manifestations hypertonicity, speech delay (associated with hearing loss) with low pitched, growling monotonous sounds, mental retardation (average IQ 53) , feeding difficulties, and psychomotor retardation (decreased acquisition of skills requiring the coordination of mental and muscular activity). Craniofacial features include: long eyelashes with a continuous eyebrow (synophrys), icrobrachycephaly, a small, broad, upturned nose, a thin down turning upper lip, a long philtrum, and micrognathia (small mandible).

32. Pediatric References 32. Pediatric Database (PEDBASE). cornelia de lange syndrome. 1994. Cornelia deLange Syndrome. Available at http//www.stepstn.com/nord/rdb_sum/30.htm. http://www.dpo.uab.edu/~birmie/refer.htm

REFERENCES Home About Me Table of Contents What is Physical Therapy ... Contact me 7. Swayze VW, Andreasen NC, Ehrhardt JC, et al. Developmental abnormalities of the corpus callosum in schizophrenia. Arch Neurol.1990;47:805-808. 9. National Institutes of Health. Agenesis of the Corpus Callosum. June 1996. Available at: http://www.ninds.nih.gov/health_and_medical/disorders/agenesis_doc.htm . Accessed on July 9, 2000. 10. Thomas CL ed. Taber's Cyclopedic Medical Dictionary. 18th ed. F.A. Davis Company. Philadelphia;1997. 11. Angelman Syndrome Foundation. Angelman Syndrome Information for Families and Professionals. April 10, 1998. Available at: http://www.asclepius.com/angel/asfinfo.html . Accessed July 9, 2000. 12. Jones KL. Smith's Recognizable Patterns of Human Malformation. 5th edition. W.B. Saunders Company. Philadelphia;1997. 14. Schad CR. Jalal SM. Thibodeau SN. Genetic testing for Prader-Willi and Angelman syndromes. Mayo Clinic Proceedings. 1995;70(12):1195-6. 15. Donohue M, Bleakney DA. Arthrogryposis Multiplex Congenita. In: Campbell SK ed. Physical Therapy for Children. Philadelphia, PA: WB Saunders; 1995:261-277. 16. Hall JG. Arthrogryposis Multiplex Congenita: Etiology, Genetics, Classification, Diagnostic Approach, and General Aspects. Journal of Pediatric Orthopedics. 1997;6:159-166.

33. LISTS> NEW: CdLS-KIDS - Cornelia De Lange Syndrome Support List LISTS NEW CdLSKIDS - cornelia de lange syndrome Support List. CdLS-KIDSon Listserv@home.ease.lsoft.com cornelia de lange syndrome Support list. http://scout.wisc.edu/addserv/NH/97-09/97-09-24/0021.html

Date: Wed, 24 Sep 1997 09:17:01 -0500 Subject: NEW: CdLS-KIDS - Cornelia de Lange Syndrome Support List To: NEW-LIST@LISTSERV.NODAK.EDU CdLS-KIDS on Listserv@home.ease.lsoft.com Cornelia de Lange Syndrome Support list The CdLS-KIDS list is an email discussion list for parents, caregivers, extended family and friends of children with Cornelia de Lange Syndrome. Here we can discuss our children's accomplishments and defeats, knowing that the audience includes others who know what we are going through. This list can also be a forum to discuss how others are addressing specific problems/concerns with feeding, learning, education, medical issues, techniques and equipment, as well as describing the problems to friends and family or just coping. The main goal of this list is to provide fellowship among parents separated by geography who have much in common. This list is not intended as a forum to dispense medical advice or diagnoses. To subscribe, send the following command in the BODY of mail to:

34. Experts, Consultants, Authorities - Cornelia De Lange Syndrome Specialty cornelia de lange syndrome. AMFS, Inc. (American MedicalForensics). 2640 Telegraph Avenue Berkeley, California 94704 Tel http://www.hgexperts.com/listing/Medical-Experts-Cornelia-de-Lange-Syndrome.asp

EXPERT WITNESSES MEDICAL EXPERTS MEDIATORS ARBITRATORS LEGAL CONSULTANTS Appraisal Banking Case Management Employment ... SPEAKERS BUREAU Medical Experts - Advanced Search Search for any word(s) in Companies' Description and Expertises Company Name City State/Province Country Alabama Alaska Alberta Arizona Arkansas British Columbia California Colorado Connecticut Delaware District of Columbia Florida Georgia Guam Hawaii Idaho Illinois Indiana Iowa Kansas Kentucky Louisiana Maine Manitoba Maryland Massachusetts Michigan Minnesota Mississippi Missouri Montana Nebraska Nevada New Brunswick New Hampshire New Jersey New Mexico New York Newfoundland North Carolina North Dakota Northwest Territory Nova Scotia Ohio Oklahoma Ontario Oregon Pennsylvania Prince Edward Island Puerto Rico Quebec Rhode Island Saskatchewan South Carolina South Dakota Tennessee Texas U.S. Virgin Islands Utah Vermont Virginia Washington West Virginia Wisconsin Wyoming Yukon Territory United States of America Afghanistan Albania Algeria American Samoa Andorra Angola Anguilla Antigua Argentina Armenia Aruba Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bermuda Bhutan Bolivia Bosnia and Herzegovina Botswana Brazil British Virgin Islands Brunei Brunei Darussalam Bulgaria Burkina Faso Burma Burundi Cambodia Cameroon Canada Canary Islands Cayman Islands Central African Republic Chad Channel Islands Chile China Colombia Comoros Congo Congo (Dem. Rep.)

35. ORPHANET® : Cornelia De Lange Syndrome Translate this page ORPHANET. ORPHANET database access. cornelia de lange syndrome. Directaccess to details Alias Brachman-de Lange syndrome. Home Page. http://www.orpha.net/static/GB/cornelia_lange.html

ORPHANET database access Cornelia de Lange syndrome Direct access to details Alias : Home Page

36. Endeavour: Cornelia De Lange Syndrome cornelia de lange syndrome. cornelia de lange syndrome (CdLS) is congenital,which means that it is present from birth. Common physical http://corporate.endeavour.com.au/disability/cornelia_de_lange_syndrome.asp

Home About Disability About Endeavour Info For Families And Friends ... Some of the Syndromes Cornelia De Lange Syndrome What does it mean to have an Intellectual Disability? How Endeavour works alongside people Useful Links for information about specific disabilities Interacting with people with Intellectual Disability Cornelia De Lange Syndrome Cornelia de Lange Syndrome (CdLS) is congenital, which means that it is present from birth. Common physical characteristics of people with CdLS include delayed growth and small stature, small head size, thin eyebrows which frequently meet at the midline, a short upturned nose, and thin, downturned lips. People with CdLS can suffer from seizures, heart defects, cleft palate, bowel abnormalities and developmental delay. Cornelia de Lange Syndrome Association (Australasia) Inc. website - http://www.cdlsaus.org

37. Analysis Of Cornelia De Lange Syndrome 1 Analysis of cornelia de lange syndrome 1, G2D Home. GO TO CHROMOSOMAL REGION Diseasemapped cornelia de lange syndrome 1 Chromosome 3 Genomic position start http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U1034

38. Health Library - Cornelia De Lange Syndrome cornelia de lange syndrome. None. General Discussion. cornelia de lange syndrome(CdLS) is a rare genetic disorder that is apparent at birth (congenital). http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

39. Home About CdLS Association Events Fundraising Medical FAQ OZ Jenny was awarded the Medal of the Order of Australia for “service to the community,specifically for the cornelia de lange syndrome Association of Australia http://www.cdlsaus.org/

Home About CdLS Association Events ... Newsletter Sponsored by: Australian Maritime Systems What's New! Registration and Accommodation Forms are Now Available!!! Registration and Program A complete program of events plus information on pre- and post Conference accommodation and sightseeing tours. Please download this file. Registration Forms Registration Forms for Professionals, Families, Conference Workshops, Care Program and Outings. The Australasian CdLS Association will cover the registration costs of attending persons with CdLS. Please download this file. Panthers Accomodation Form Don't miss out on the special rates being offered to CdLS families. All people with CdLS will be charged at children's rates for accommodation and meals by Panthers. Please open this file, enter your details and return to Panthers by post, email or fax. Disabled accommodation is designed for wheelchair access to the shower. As room numbers are limited, they should only be booked if needed Medical History Form A complete medical history for your CdLS family member to be used during Doctor Consultations.

40. Home About CdLS Association Events Fundraising Medical FAQ OZ What is cornelia de lange syndrome (CdLS)? CdLS is a congenital syndrome, meaningit is present from birth. Why is it called cornelia de lange syndrome? http://www.cdlsaus.org/?page=faq

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