1. CdLS USA Foundation: Cornelia De Lange Syndrome The Cornelia de lange syndrome (CdLS) Foundation is a nonprofit 501 (c) (3)voluntary health organization based in Avon, Connecticut (USA). http://www.cdlsusa.org/

Your browser does not support script FEATURED ARTICLES: Eye Care - The Families’ Perspective CdLS and the Eye A Community United by Cornelia de Lange Syndrome Welcome to the official web site of the CdLS-USA Foundation. We hope the information on this site will shed light on any questions you may have about Cornelia de Lange Syndrome and this Foundation. The CdLS Foundation is a family support organization which exists to reach out, provide help and offer hope to everyone touched by this genetic condition. Our primary purpose is to offer support on a personal basis and we encourage you to let us know how we can help you and the person in your life with CdLS. Please join us and support our mission of Reaching out, Providing help and Giving hope to everyone touched by CdLS. Schedule Your CdLS Event Online Did you know that you can schedule your CdLS Awareness Activity or CdLS Gathering online? The online forms are accessible via the link below: NEWS Click above to connect with a family in your area WWW CdLSusa.org

2. CORNELIA DE LANGE SYNDROME : Contact A Family - For Families With Disabled Child A description of Cornelia de lange syndrome, its inheritance patterns and prenatal diagnosis. http://www.cafamily.org.uk/Direct/c72.html

printer friendly CORNELIA DE LANGE SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Cornelia de Lange: Brachmann-de Lange; De Lange I syndrome; Amsterdam dwarfism Cornelia de Lange syndrome (CDLS) is rare and affects between 1 in 40,000 and 1 in 100,000 babies born. Children with Cornelia de Lange syndrome have a particular facial appearance and often look like brothers and sisters. They are small at birth and remain small compared to children of the same age. The ability to learn is delayed in children but this varies from mild to severe. Almost all have limb abnormalities which range from small arms to complete absence of the forearms. Feeding and bowel problems, particularly gastro-oesophageal reflux, are also present. In almost all cases the children will have an unusual marbled appearance to the skin on their arms and legs, particularly when they are cold. Some of the children will have psychological and behavioural problems including autistic-like features and self-injury. Other problems including heart problems may also be present. Inheritance patterns The cause of Cornelia de Lange syndrome is not known although it is almost certainly due to a genetic fault. It is rare for this condition to occur twice in the same family.

3. NORD - National Organization For Rare Disorders, Inc. Offers the synonyms, a general discussion and further resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cornelia de L

4. Cornelia De Lange Syndrome / Family Village Library Cornelia de lange syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. CdLS USA Foundation: Facts About CdLS Why is it called Cornelia de lange syndrome (CdLS)? The syndrome is sometimesreferred to as Brachmannde-Lange Syndrome after Dr. W. Brachmann, http://www.cdlsusa.org/about_cdls/faq.html

Your browser does not support script FAQs About CdLS What is a Syndrome? How is CdLS recognized? Why is it called Cornelia de Lange Syndrome (CdLS)? How many people have CdLS? ... If my child has CdLS, what can I expect? What is a Syndrome? "Syndrome" is a medical term for a condition in which there is a collection of signs (observable body changes) and symptoms (problems observed by the patient) recognizable by a doctor's exam. Individuals with a syndrome may not have all of its associated signs and symptoms, but they must have enough to be considered "diagnostic." Conversely, because someone may display some of the signs and symptoms of a syndrome, does not necessarily mean they have it. Top of Page How is CdLS recognized? CdLS is a congenital syndrome, meaning it is present from birth. Most of the signs and symptoms may be recognized at birth or shortly thereafter. A child need not demonstrate each and every sign or symptom for the diagnosis to be made. As with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birthweight (often under five pounds), slow 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.

6. CORNELIA DE LANGE SYNDROME Contact A Family - For Families With A description of Cornelia de lange syndrome, its inheritance patterns and prenatal diagnosis. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Cornelia De Lange Syndrome Article describes Cornelia de lange syndrome, its diagnosis, and treatment. http://rarediseases.about.com/cs/cdls/a/101903.htm

var zLb=12; var zIoa1 = new Array('Suggested Reading','Internet links on CDLS','http://rarediseases.about.com/cs/cdls'); var zIoa2 = new Array('Elsewhere on the Web','CdLS-USA Foundation','http://www.cdlsusa.org'); zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases C - D Rare Diseases: C Cornelia de Lange Syndrome Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Stay up to date! Compare Prices Email to a friend ... Print this page Suggested Reading Internet links on CDLS Elsewhere on the Web CdLS-USA Foundation Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Muscular Dystrophy Autoimmune Kidney Disease Minamata Disease Charcot-Marie-Tooth Disease ... Meckel-Gruber Syndrome adunitCM(150,100,'x55') Cornelia de Lange Syndrome From Mary Kugler Your Guide to Rare / Orphan Diseases FREE Newsletter.

8. Cornelia De Lange Syndrome Article describes Cornelia de lange syndrome, its diagnosis, and treatment. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Gene For Cornelia De Lange Syndrome Identified A group of researchers funded by the National Institute of Child Health and HumanDevelopment (US). has discovered a gene for Cornelia de lange syndrome. http://rarediseases.about.com/b/a/089795.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Gene for Cornelia de Lange syndrome identified Rare/Orphan Diseases Blog Main From Mary Kugler Your Guide to Rare / Orphan Diseases FREE Newsletter. Sign Up Now! June 03, 2004 Gene for Cornelia de Lange syndrome identified A group of researchers funded by the National Institute of Child Health and Human Development (U.S.). has discovered a gene for Cornelia de Lange syndrome . The syndrome has many symptoms, including mental retardation, behavior issues, impaired growth, hearing loss, and physical abnormalities. The gene for Cornelia de Lange syndrome is located on chromosome 5, and researchers expect this information will lead to development of a genetic test for the disorder. Email a Friend Display Latest Headlines Read Archives Advertisement Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Muscular Dystrophy Autoimmune Kidney Disease Minamata Disease Charcot-Marie-Tooth Disease ... Meckel-Gruber Syndrome adunitCM(150,100,'x55')

10. Cornelia De Lange Syndrome About the author's daughter who has Cornelia de lange syndrome. Information on CdLS, updates on Jessica's progress and support links. http://www.geocities.com/Heartland/Meadows/8874

Hello, and welcome to Jessica's Place! Jessica was born in September 1996 and was diagnosed with Cornelia de Lange Syndrome (CdLS) at two months of age. With this web site, we'd like to share a little bit of Jessica's life and experience with CdLS in hopes of reaching out to families, caregivers, teachers and others who have a person with CdLS in their lives; as well as those interested in learning more about the syndrome. home what is CdLS? about me photos ... View Guestbook

11. CdLS USA Foundation Cornelia De Lange Syndrome The Cornelia de lange syndrome (CdLS) Foundation is a nonprofit 501 (c) (3) voluntary health organization based in Avon, Connecticut (USA). The http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. CdLS USA Foundation Facts About CdLS Why is it called Cornelia de lange syndrome (CdLS)? http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Cornelia De Lange Syndrome / Family Village Library The Cornelia de lange syndrome Foundation is a family support organization whichexists to reach out, provide help and offer hope to everyone touched by http://www.familyvillage.wisc.edu/lib_cdls.htm

Cornelia de Lange Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Cornelia de Lange Syndrome" Who to Contact The Cornelia de Lange Syndrome Foundation, Inc. 302 West Main Street, #100 Avon, CT 06001 860-676-8337 - Fax Web: http://www.cdlsusa.org/ The Cornelia de Lange Syndrome Foundation is a family support organization which exists to reach out, provide help and offer hope to everyone touched by this genetic condition. Our primary purpose is to offer support on a personal basis and we encourage you to let us know how we can help you and the person in your life with CdLS. Where to Go to Chat with Others CDLS-KIDS An e-mail discussion list for parents, caregivers, extended family, and friends of children with CDLS. Learn More About It Facts About Cornelia de Lange Syndrome About CDLS Cornelia de Lange Syndrome - eMedicine CDLS -Genetics Home Reference ... Education Protocol for Cornelia de Lange Syndrome Web Sites Cornelia de Lange Syndrome Foundation Web Site Cornelia de Lange Syndrome - UK Cornelia de Lange Syndrome (CdLS) Online Support Group Jessica's Place Amanda's Room Kayla's (Prink) Web Site Back to [ C - D Family Village Home Library Coffee Shop ... Information Last Updated 8/17/2005 by familyvillage@waisman.wisc.edu

14. BBC NEWS Health Gene Fault Link To Rare Syndrome Scientists discover the faulty gene which causes Cornelia de lange syndrome , a rare but disabling condition. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. EMedicine - Cornelia De Lange Syndrome : Article By Mustafa Tekin, MD Cornelia de lange syndrome Cornelia de lange syndrome (CDLS) is a multiplecongenital anomaly syndrome characterized by a distinctive facial appearance, http://www.emedicine.com/ped/topic482.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Cornelia De Lange Syndrome Last Updated: March 7, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: CDLS, Brachmann-de Lange syndrome, de Lange syndrome, Amsterdam syndrome, typus degenerativus amstelodamensis, growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, upper extremity malformation, characteristic facies AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Mustafa Tekin, MD , Assistant Professor of Pediatrics and Genetics, Division of Pediatric Molecular Pathology and Genetics, Ankara University School of Medicine, Turkey Coauthor(s): Joann Bodurtha, MD, MPH , Associate Chairman, Associate Professor, Department of Human Genetics, Medical College of Virginia Mustafa Tekin, MD, is a member of the following medical societies:

16. CdLs UK And Ireland Information Centre. Facts and basic information about the CdLS syndrome Read more Background http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. EMedicine - De Lange Syndrome : Article By Krystyna H Chrzanowska, MD, PhD de lange syndrome de lange syndrome is a relatively common multiple congenitalanomaly/mental retardation (MCA/MR) disorder of unknown cause. http://www.emedicine.com/derm/topic722.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases de Lange Syndrome Last Updated: June 21, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: Cornelia de Lange syndrome, CDL, CDLS, Brachmann-de Lange syndrome, BDLS, typus degenerativus amstelodamensis, multiple congenital anomaly/mental retardation, MCA/MR, MIM 122470, malformation syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Krystyna H Chrzanowska, MD, PhD , Head of Genetic Counseling Unit, Associate Professor, Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland Coauthor(s): Camila K Janniger, MD , Chief of Pediatric and Geriatric Dermatology, Clinical Professor, Dermatology and Clinical Associate Professor, Pediatrics, UMDNJ-New Jersey Medical School Editor(s): Albert C Yan, MD

18. Australian Conference For more details and registration forms, please see the Italian web site here THE CORNELIA de lange syndrome GENE IS IDENTIFIED A team of http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. Special Child: Disorder Zone Archives - Cornelia De Lange Syndrome Cornelia de lange syndrome (CdLS) is a disorder that results in several physicaland developmental abnormalities. The cause of CdLS is unknown at this time, http://www.specialchild.com/archives/dz-010.html

Disorder Zone Archives Cornelia de Lange Syndrome Madalyn Gilchrist Ketchel Clements Introduction Cornelia de Lange syndrome (CdLS) is a disorder that results in several physical and developmental abnormalities. The cause of CdLS is unknown at this time, however, it is thought that the disorder may be of a genetic nature (possibly a faulty gene on chromosome 3). Most cases are sporadic, however, there has been documentation of affected siblings, which would suggest inheritance. It is said to occur in 1 in 10,000 to 1 in 30,000 live births and is found equally in males and females. Although this syndrome is considered rare, experts agree that it is likely underdiagnosed. CdLS was first described in 1916 by Dr. W. Brachmann and was later identified again by Dr. Cornelia de Lange, a Dutch pediatrician, in 1933. Both physicians described children with common symptoms and characteristics (as shown below). Features and Characteristics There are several physical and developmental characteristics that are associated with CdLS, however, not every individual has all the characteristics. The following is a list of the most common traits: Low birth weight (usually under 5 pounds) Delayed growth and small stature Developmental delay Limb differences (sometimes missing limbs or portions of limbs) Small head size (microcephaly) Thin eyebrows which typically meet at midline Long eyelashes Short upturned nose and thin downturned lips Long philtrum Excessive body hair

20. EMedicine - Cornelia De Lange Syndrome Article By Mustafa Tekin Cornelia de lange syndrome Cornelia de lange syndrome (CDLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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