21. Cleft And Craniofacial Anomalies: Cornelia De Lange Syndrome Cornelia de lange syndrome, however, is associated with other features that can Children with Cornelia de lange syndrome do not necessarily have all of http://www.ucdmc.ucdavis.edu/children/services/cleft/health/anomalies/cornelia.h

For Health Consumers For Health Professionals Find a Clinic Find a Doctor ... Employment Cornelia de Lange Syndrome Cornelia de Lange Syndrome is also sometimes referred to as CdLs for short or Brachman-de Lange Syndrome. What does Cornelia de Lange Syndrome mean for a child? Cornelia de Lange Syndrome is diagnosed by clinical features. Children with this Syndrome often have long eyelashes, bushy eyebrows and synophrys (joined eyebrows). Their hairline may be lower than other family members, and they may have more body hair. These features are often less obvious in males after puberty. Children are often shorter than others in the family. None of these features may cause a problem for the person concerned; they are just clues for a diagnosis. Cornelia de Lange Syndrome, however, is associated with other features that can cause problems. Children with Cornelia de Lange Syndrome do not necessarily have all of these problems and the severity of the problems does vary. Children with CdLs may have gastrointestinal tract difficulties. These can include vomiting, intermittent poor appetite, constipation, diarrhea or gaseous distention. The gastrointestinal symptoms range from mild to severe.

22. Genetic Conditions / Rare Conditions Information Site Cooley anemia (thalassemia major, betathalassemia) Conjoined twins. Cornelia de lange syndrome. Costello syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

23. Cornelia De Lange Syndrome - Genetics Home Reference Where can I find additional information about Cornelia de lange syndrome?What other names do people use for Cornelia de lange syndrome? http://ghr.nlm.nih.gov/condition=corneliadelangesyndrome

Home What's New Browse Handbook ... Search Cornelia de Lange syndrome Related Gene(s) Quick links to this topic MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Tests DNA test labs PubMed Recent literature OMIM Genetic disorder catalog References Cornelia de Lange syndrome On this page: What is Cornelia de Lange syndrome? How common is Cornelia de Lange syndrome? ... help with understanding Cornelia de Lange syndrome? What is Cornelia de Lange syndrome? Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The condition is characterized by distinctive facial features (including thin, arched eyebrows), slow growth before and after birth, mental retardation, abnormalities involving the arms and hands, excessive body hair (hirsutism), heart defects, and problems with the gastrointestinal tract. Other common signs and symptoms include an opening in the roof of the mouth (a cleft palate), deafness, eye problems, and skeletal abnormalities. The features of Cornelia de Lange syndrome vary widely among affected individuals. How common is Cornelia de Lange syndrome?

24. Cornelia De Lange Syndrome - References - Genetics Home Reference Cornelia de lange syndrome is caused by mutations in NIPBL, Dominant paternaltransmission of Cornelia de lange syndrome a new case and review of 25 http://ghr.nlm.nih.gov/condition=corneliadelangesyndrome/show/References

Home What's New Browse Handbook ... Search Cornelia de Lange syndrome Back to condition summary Cornelia de Lange syndrome References These sources were used to develop the Genetics Home Reference condition summary on Cornelia de Lange syndrome. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet. 2004 Oct;75(4):610-23. Epub 2004 Aug 18. PubMed citation Jackson L, Kline AD, Barr MA, Koch S. de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet. 1993 Nov 15;47(7):940-6. PubMed citation ... PubMed citation Last Comprehensive Review: December 2004 Published: September 6, 2005 Contact NLM Customer Service Lister Hill National Center for Biomedical Communications ... Selection Criteria for Web Links Indicates a page outside Genetics Home Reference.

25. Cornelia De Lange Syndrome de lange syndrome information, national and international support groups, clinicswith genetic counselors and geneticists. http://www.kumc.edu/gec/support/cornelia.html

de Lange syndrome Cornelia de Lange syndrome, Brachman-DeLange Cornelia de Lange Syndrome Foundation 302 West Main Street, #100 Avon, CT 06001 Telephone: 800.223.8355 or 860.676.8166 Fax: 860.676.8337 E-mail: info@cdlsusa.org Web site: www.cdlsusa.org or www.cdlsoutreach.org/ CdLSWorld , international organizations Australasia (Australia, Malaysia, New Zealand, Philippines, Singapore and SE Asia) CdLS Association (Australasia), Inc. 159 Boddington Crescent Australian Capital Territory Kambah 2902 AUSTRALIA E-mail: pcrawfor@dynamite.com.au Phone: 02 62 31 6866 Web site: www.cdlsaus.org/ New South Wales / Capital Territory Coordinator 135 Princes Street Putney, New South Wales 2112 AUSTRALIA E-mail: jrollo@one.net.au Phone: 02 9809 0287 New Zealand 11 Winsomere Circle Westmere, Auckland 2 NEW ZEALAND E-mail: vernon@ptgroup.co.nz Phone: 09 378 0720 Malaysia and Singapore 20-25-2 Angkupuri Condominium Jalan 1/70C off Jalan Bukit Kiara 50480 Kuala Lampur MALAYSIA E-mail: mohdnor@simenet.com

26. Brachmann-de Lange Syndrome (www.whonamedit.com) Brachmannde lange syndrome Amstelodamensis typus degenerativus, Amsterdamdegeneration type Lange, Amsterdam dwarf, congenital (embryological) http://www.whonamedit.com/synd.cfm/1080.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Brachmann-de Lange syndrome Also known as: Cornelia de Lange's syndrome Brachmann-Cornelia de Lange syndrome de Lange’s syndrome Associated persons: Winfried Robert Clemens Brachmann Cornelia Catharina de Lange Description: This condition is described sometimes as one syndrome, sometimes as two. It is here entered as one entity. A rare form of oligophrenia comprising microcephaly with severe mental retardation, short stature, and characteristic facies. Craniofacial features consist of a clown-like appearance with large, low and curly eyelashes, micrognathia, thin lips and downturned upper lip (carp mouth), cleft lip and palate, optic atrophy, an upturned nose, and hirsutism. The most striking feature of the syndrome is that all the children look alike, like brothers and sisters. Often severe dysplasia of extremities. There is a lobster-claw deformity of the hand, small hands and feet with small and tapered digits, syndactyly between the second and third toes, proximal insertion of the thumb, short and curved fifth finger, phocomelia, and oligodactyly. various other malformations. Cutis marmorata, circumoral cyanosis, generalized hypertrichosis, hypoplastic nipples and umbilicus, and simian creases are the principal dermatological features. Low birth weight after full-term pregnancy and a low-pitched growling cry are the early symptoms. The majority of those affected have diminished sucking and swallowing capacity, failure to thrive, predisposition to respiratory tract infections, and frequent vomiting with aspiration pneumonia. Mental retardation is usually severe. Most patients die before the age of 6 years. The aetiology is unknown.

27. Bruck-de Lange Disease (www.whonamedit.com) Bruckde Lange disease A congenital syndrome of muscular hypertrophy, Also known as Bruck-de lange syndrome,Cornelia de Lange’s syndrome II,de Lange s http://www.whonamedit.com/synd.cfm/1081.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Bruck-de Lange disease Also known as: Bruck-de lange syndrome Cornelia de Lange’s syndrome II de Lange's disease Lange's syndrome II Synonyms: Congenital cerebral syndrome, congenitalmuscular hypertrophy-cerebral syndrome, extrapyramidal-muscular hypertrophy, muscular hypertrophy. Associated persons: F. Bruck Cornelia Catharina de Lange Description: A congenital syndrome of muscular hypertrophy, extrapyramidal disorders, and mental deficiency. Symmetrical hypertrophy of the muscles together with a thick neck, broad shoulders and short and thick extremities give the affected child the appearance of a wrestler. Long list of symptoms include hardening, hypertrophy, and hypertonia of muscles, asymmetrical skull and head bent backward, large ears and tongue, low hairline. Pathological changes in the nervous system usually include porencephaly, underdevelopment of various parts of the brain, distention of the cerebral ventricles, asymmetry of the brain, large vermis, status spongiosus, destruction of the cerebral cortex, and hypertrophy of the fornix. Other characteristics include small heart, thickening of the oesophagus and intestines, and severe mental and motor retardation. The affected infants usually die before reaching two years of age. Occurrence is mostly sporadic, but there appears to be a familial tendency.

28. BBC - Health - Conditions - Cornelia De Lange Syndrome A guide to Cornelia de lange syndrome, facts about the condition and where to gofor support. http://www.bbc.co.uk/health/conditions/corneliadelange1.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index FRIDAY 9th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Cornelia de Lange syndrome Dr Trisha Macnair There's still much to learn about this rare condition, which can cause a range of mild to severe symptoms. We look at its effects, the possible causes and where you can find support. In this article What is it? Who's affected? Treatment What is it? Cornelia de Lange syndrome encompasses characteristic physical features, developmental abnormalities and learning difficulties. Children with the syndrome are small at birth and remain small for their age Children with the syndrome are small at birth and remain small for their age. They're slow learners, although this symptom varies from mild to severe. Most will have limb abnormalities, ranging 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. Who's affected?

29. Education Protocol For Cornelia De Lange Syndrome Cornelia de lange syndrome (CdLS) has great variability in its manifestation,from those individuals who are visually recognizable as having CdLS to those http://www.tsbvi.edu/Outreach/seehear/winter00/cornelia.htm

Home Site TOC Site Search Outreach ... Winter 2000 Table of Contents (Spanish Version) 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.

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

Go to Fall 1998 Table of Contents. (Spanish Version) 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.

31. TheFetus.net - Cornelia De Lange Syndrome -Philippe Jeanty, MD, PhD Comprehensive guide to prenatal ultrasound. Covers all aspects of sonography inpregnancy and the fetus. http://www.thefetus.net/page.php?id=412

32. De Lange Syndrome Definition - Medical Dictionary Definitions Of Popular Medical Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=13301

33. Brachmann-de Lange Syndrome Definition - Medical Dictionary Definitions Of Popul Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=13396

34. Cornelia De Lange Syndrome Gene Discovered ? An international team of researchers has discovered the gene for Cornelia deLange syndrome, a disabling, multisystem genetic disease that affects an http://www.news-medical.net/?id=2612

35. Discovery Of The Gene For Cornelia De Lange Syndrome ? An international team of researchers has discovered the gene for Cornelia deLange syndrome, a disabling, multisystem genetic disease that affects an http://www.news-medical.net/?id=1616

36. The World Congress On Cornelia De Lange Syndrome In Italy The Pierfranco and Luisa Mariani NPO Foundation for child neurology is proud toannounce that the world annual congress dedicated to the Cornelia de Lange http://www.medicalnewstoday.com/medicalnews.php?newsid=23504

37. Gene Discovered For Cornelia De Lange Syndrome, A Disabling Genetic Disease An international team of researchers has discovered the gene for Cornelia deLange syndrome, a disabling, multisystem genetic disease that affects an http://www.medicalnewstoday.com/medicalnews.php?newsid=8364

38. HONselect - De Lange Syndrome Syndrome - Typus Degenerativus Amstelodamensis http://www.hon.ch/HONselect/RareDiseases/C10.271.300.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: De Lange Syndrome - Brachmann-De Lange Syndrome - Cornelia De Lange Syndrome - De Lange's Syndrome - Typus Degenerativus Amstelodamensis - Amstelodamensis, Typus Degenerativus - Brachmann De Lange Syndrome Français: DE LANGE, SYNDROME - CORNELIA DE LANGE, SYNDROME - SYNDROME DE LANGE Deutsch: De-Lange-Syndrom - Geistige Behinderung - Brachmann-De-Lange Syndrom - Cornelia-De-Lange-Syndrom Español: SINDROME DE DE LANGE - SINDROME DE BRACHMANN-DE LANGE - SINDROME DE CORNELIA DE LANGE Português: SINDROME DE DE LANGE - SINDROME DE BRACKMANN-DE LANGE - SINDROME DE CORNELIA DE LANGE HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English Yes Français Yes Deutsch No Español Yes Português No Home About us Site map Search ... Contact http://www.hon.ch/HONselect/RareDiseases/C10.271.300.html Last modified: Thu Jan 27 2005

39. Cornelia De Lange Syndrome Cornelia de lange syndrome Updated November 9, 2004 Facts About CdLS Corneliade lange syndrome Foundation PDF File; FAQs About CdLS Cornelia de Lange http://www.noah-health.org/en/genetic/conditions/cdls.html

Skip navigation About NOAH Help English Spanish Both Advanced NOAH Genetic Diseases Change text size: Cornelia de Lange Syndrome Updated: November 9, 2004 CdLS Growth Charts Cornelia de Lange Syndrome Foundation Cornelia de Lange Syndrome University of California Davis Children's Hospital Defining the Syndrome Autism Society of America Facts About CdLS Cornelia de Lange Syndrome Foundation FAQs About CdLS Cornelia de Lange Syndrome Foundation NICHD Funded Researchers Discover Gene for Cornelia De Lange Syndrome National Institute for Child Health and Development Treatment Protocols Cornelia de Lange Syndrome Foundation Information Resources Cornelia de Lange Syndrome Foundation Researched by NOAH Contributing Editor: Patricia E. Gallagher, The New York Academy of Medicine Library NOAH Genetic Diseases Specific Conditions > Cornelia de Lange Syndrome Health Topics Index A to Z Page of the Month Advanced Search ... Feedback

40. Search Result For "Cornelia De Lange Syndrome" CdLS Growth Charts; Cornelia de lange syndrome; Defining the Syndrome; FactsAbout CdLS; FAQs About CdLS; NICHD Funded Researchers Discover Gene for http://www.noah-health.org/search/results.php?lang=1&keyword=Cornelia de Lange S

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