61. EPEC - Educating Parents Of Extra-special Children - Cornelia De Lange Syndrome EPEC Educating Parents of Extra-special Children - Cornelia de Langesyndrome (CdLS). EPEC Cornelia de lange syndrome (CdLS). Cornelia http://www.epeconline.com/CorneliaDeLangeSyndrome.html

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. Cornelia de Lange syndrome (CdLS) Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings typically include: delays in physical development before and after birth (prenatal and postnatal growth retardation) characteristic abnormalities of the head and facial (craniofacial) area, resulting in a distinctive facial appearance malformations of the hands and arms (upper limbs); and mild to severe mental retardation. Many infants and children with the disorder have: an unusually small, short head (microbrachycephaly) an abnormally long vertical groove between the upper lip and nose (philtrum) a depressed nasal bridge upturned nostrils (anteverted nares) and a protruding upper jaw (maxillary prognathism). Additional, characteristic facial abnormalities may include:

62. Qango : Health: Diseases And Conditions: C: Cornelia De Lange Syndrome category Options Help. Home Health Diseases and Conditions C Cornelia de lange syndrome, Suggest a Site. Health, etc. If you http://www.qango.com/dir/Health/Diseases_and_Conditions/C/Cornelia_de_Lange_Synd

Chat Forums Free Email Personals Classifieds ... Help Qango Directory Cornelia de Lange Syndrome all of Qango only this category Options Help Home Health ... C > Cornelia de Lange Syndrome Suggest a Site Health, etc If you would like to suggest a site for this category please click here Home Health Diseases and Conditions ... C > Cornelia de Lange Syndrome Suggest a Site Home Suggest a Site Search ... Login

63. INFOLINK DATABASE /All Locations Name, Cornelia de lange syndrome Support Group. Purpose, Provision ofsupport to families with Cornelia de lange syndrome (CDLS) children. http://henrietta.liswa.wa.gov.au:81/search/dCounselling/dcounselling/-5,-1,0,B/f

Name Cornelia de Lange Syndrome Support GroupAddress C/- 135 Princes Street, Putney, NSW Mailing State Co-ordinator, 33 Grenadier Drive, Thornlie, WA, 6108 Telephone Tel: (08) 9452 7572 Tel: 0413 569 171 (Mobile) Email, etc. Email: ssandilands@primus.com.au Email: cdlsaust@primus.com.au Personnel State Co-ordinator and National Vice President: Stephen Sandilands, (08) 9452 7572 (Home), 0413 569 171 (Mobile) Purpose Provision of support to families with Cornelia de Lange Syndrome (CDLS) children. Provide information on the Syndrome and educational literature on developmental situations and medical implications. Promote, support and foster research into the genetic cause of this disability. Note Membership: 100 Fees, etc. Fees: $25.00 per annum For service: Contact State Co-ordinator Parent Cornelia de Lange Syndrome Australasia Association Updated Subject HealthDiseasesSelf Help GroupsCornelia de Lange SyndromeAdded name Cornelia de Lange Syndrome Australasia Association NAME SUBJECT LOCATION WORD Community Records Government Records View Entire Collection

64. Brachmann De Lange Syndrome - General Practice Notebook Brachmann de lange syndrome. Brachmann de lange syndrome is characterisedby small hirsute babies with microencephaly. Characteristic http://www.gpnotebook.co.uk/cache/-1033175038.htm

Brachmann de Lange syndrome Brachmann de Lange syndrome is characterised by small hirsute babies with microencephaly. Characteristic features include: thick confluent eyebrows small upturned nose long and featureless philtrum thin downturned lips small chin the limbs may be short with digital anomalies These babies generally develop severe mental retardation and failure to thrive. The majority die within the first two years of life. The syndrome is sporadic with a recurrence risk of about 1:30. Click here for more information...

65. Children's Title Facing the challenges a family's guide to cornelia de lange syndrome.Author Cornelia de lange syndrome Foundation. Publication Date 1/1/2001. http://www.seattlechildrens.org/parents/childcite/SearchResults.asp?KeySubject=2

66. NORD - National Organization For Rare Disorders, Inc. Cornelia de lange syndrome. Copyright 1984, 1985, 1987, 1989, 1992, 1993, 1995,1997, 1998, 1999, 2000, 2003 Synonyms of Cornelia de lange syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cornelia de L

67. AD HOC BIBLIO - INDEX SUJETS LETTRE C Compilé Le 14/01/03 Galactosaemia .m; Classical Phenylketonuria .m; Corneliade lange syndrome .m; Cri du chat Syndrome .m; Down Syndrome http://www.cidg.com/~marienf/k/i/mid3c.htm

C Achieving independence by a high level quadriplegic through motivation and techn... [m] Assessment for therapeutic positioning in seating in the C.P. population.... [m] Bead seat re-visited.... [m] Clinical performance of scooters and power based wheelchairs users using a power... [m] How to evaluate a pressure relief cushion: A literature review.... [m] Innovations in therapeutic positioning. The use of "Adaptfoam" for quick customi... [m] Issues in developing custom car seats for young children with physical disabilit... [m] Seating and mobility considerations for children with Duchenne Muscular dystroph... [m] The effects of saddle seating on trunk posture, postural sway, and upper-extremi... [m] Abstracts of the 21st Annual Carrell-Krusen Symposium, Dallas, TX, february 24-... [a] [m] [m] [m] [m] Le cerveau des enfants atteints d'autisme : nouvelles explorations.... [m] [m] [m] Congres : Eigth Annual Conference on Gait Analysis, St. Paul, MI, March 1998... Summary of pathologic gait.... [m] Congres : Eigth Annual Conference on Gait Analysis, St. Paul, MI, March 1998... Assessing functional outcomes....

68. Down Syndrome.... 1995 Translate this page Titre/Title, Cornelia de lange syndrome. Editeur/Editor, MacKeithPress. Lieu/Place, London, UK. Date, 1995. Collation/Series, p.98-101. http://www.cidg.com/~marienf/k/i/n/m003092.htm

# Mono.: S0002792 Cote/Call Number Auteur/Author Udwin, Orlee Dennis, Jennifer Titre/Title Down Syndrome. Editeur/Editor MacKeith Press Lieu/Place London, U.K. Date Collation/Series p.105-09 Descripteurs/Descriptors Trisomie 21 Phenotype comportemental Coll.: Clinics in Developmental Medicine, No 138 Demande par courrier Type de demande: < Client (nom, adresse...): Type de demande: PEB Photocp (frais) Commentaires:

69. MSN Health - Cornelia de lange syndrome Important It is possible that the main title ofthe report Cornelia de lange syndrome is not the name you expected. http://content.health.msn.com/NR/internal.asp?GUID={7BCD94F1-F6AB-4DEB-9A72-C176

70. 1Up Health > Health Links Directory > Conditions And Diseases: Neurological Diso Sites. Baylee's Web Suite Cornelia de lange syndrome Specially gearedtowards new parents, family and friends of CdLS children. http://www.1uphealth.com/links/chromosomal-cornelia-de-lange-syndrome.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Chromosomal : Cornelia De Lange Syndrome Description See Related Categories Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Rare Disorders Sites Baylee's Web Suite: Cornelia de Lange Syndrome Specially geared towards new parents, family and friends of CdLS children. Information about the disease as well as Baylee's personal progress. The CaF Directory A description of Cornelia de Lange syndrome, its inheritance patterns and pre-natal diagnosis. NORD - Cornelia de Lange Syndrome Offers the synonyms, a general discussion and further resources. Pediatric Database A definition of Cornelia de Lange syndrome, the epidemiology, history, clinical features, organ malformations, investigations and management. Help build the largest human-edited directory on the web.

71. The Health Library — Genetics And Birth Defects Cornelia de lange syndrome. FAQs About CdLSCornelia de lange syndrome Foundation.Treatment Protocols for CdLSCornelia de lange syndrome Foundation. http://healthlibrary.stanford.edu/resources/internet/bodysystems/genetics4.html

Diseases and Disorders Use these links to jump directly to your topic of interest: Birth Defects (General) Cardiovascular Defects Chromosome Disorders Connective Tissue Disorders ... Nervous System Defects Genetics and Birth Defects: Page 1 Page 2 Page 3 Page 5 Chromosome Disorders and Other Multiple Abnormalities Chromosomal Abnormalities:March of Dimes Introduction to Chromosome Abnormalities:Chromosome Deletion Outreach Angelman Syndrome Angelman Syndrome:NINDS Facts About Angelman Syndrome:Angelman Syndrome Foundation Genes and Disease:Angelman Syndrome:NCBI Angelman Syndrome:GeneReviews, University of Washington Beckwith Wiedemann Syndrome Questions and Answers About Living With Beckwith-Wiedemann Syndrome:National Cancer Institute Info for New Families:Beckwith Wiedemann Support Network Beckwith-Wiedemann Syndrome:GeneReviews, University of Washington Bloom Syndrome Bloom's Syndrome:Jewish Genetic Diseases Bloom Syndrome:OMIM, NCBI Cornelia de Lange Syndrome FAQs About CdLS:Cornelia de Lange Syndrome Foundation Treatment Protocols for CdLS:Cornelia de Lange Syndrome Foundation Cornelia de Lange Syndrome:OMIM, NCBI Cri du Chat Syndrome What is Cri du Chat Syndrome?:Cri du Chat Support Group of Australia

72. Diagnosis - Hirsutism Table Cornelia de lange syndrome, Typus degenerativus amstelodamensis (De Langesyndrome, Brachmande lange syndrome), 122470. HAIR-AN (HyperAndrogenism http://www.keratin.com/ab/ab008.shtml

hirsutism table Home Forums Privacy Advertising ... Home On this page... Introduction List of disorders involving excess hair growth (hirsutism) Introduction The table below records disorders known to involve excess hair growth due to hormonal influence (hirsutism). The clinical distinction between hirsutism and hypertrichosis is that hirsutism involves hair growth in a secondary sexual characteristic pattern. For example, women with pigmented terminal hair growth in the beard, mustache, chest, and escutcheon areas have hirsutism and not hypertrichosis. Hirsutism typically involves endocrine dysfunction (abnormal hormone levels). This is not necessarily a complete list of disorders involving hirsutism. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible. Where a disorder is known by more than one name, alternative names are given in the second column and the record duplicated in the first column under each respective name. Brackets around alternative disorder names indicate an indirect association, for example a subcategory of the disorder. These records are not duplicated in the first column.

73. Diagnosis - Hypertrichosis Table Congenital smooth muscle hamartoma, Cornelia de lange syndrome, Typus degenerativusamstelodamensis (de lange syndrome, Brachmande lange syndrome), 122470. http://www.keratin.com/ab/ab007.shtml

hypertrichosis table Home Forums Privacy Advertising ... Home On this page... Introduction List of disorders involving excess hair growth (hypertrichosis) as a secondary symptom List of disorders involving excess hair growth (hypertrichosis) as a primary symptom Introduction The tables below records disorders known to involve hypertrichosis. The first table lists disorders where hypertrichosis is a primary symptom. The second table lists disorders where hypertrichosis can be one of several symptoms. Typically the other symptoms are of greater concern and health/life threatening. The clinical distinction between hypertrichosis and hirsutism is that hypertrichosis involves hair growth on any hair bearing area of skin. The excess hair growth may induced by a wide variety of environmental or genetic factors. Hirsutism is the growth of hair in a secondary sexual characteristic pattern. In women hirsutism involves unwanted excess hair limited to regions including the mustache, beard, chest and/or escutcheon areas. Hirsutism is typically induced by hormonal imbalance, especially androgen excess. This is not necessarily a complete list of disorders involving hypertrichosis. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible.

74. AusPharmList 012003/164 Cornelius de lange syndrome. Posted 20/01/2003 by Elizabeth Anderson. MonikaOgilvie wrote Has anyone heard of Cornelius de lange syndrome? http://www.auspharmlist.net/2003/012003/164.html

Cornelius de Lange syndrome Posted 20/01/2003 by Elizabeth Anderson Monika Ogilvie wrote: "Has anyone heard of Cornelius de Lange Syndrome? I'd like to know more about this condition but cannot find anything in the literature. Any ideas?" Hello Monika, I suspect you may mean Cornelia de Lange Syndrome. This is a Medline subject heading term. MeSH HEADING: DE LANGE SYNDROME SCOPE: A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231) Other terms for De Lange syndrome are: brachmann-de lange syndrome cornelia de lange syndrome de lange's syndrome typus degenerativus amstelodamen or in Embase other terms for De Lange syndrome are: Amsterdam Degenerative Type Amsterdam Dwarf Brachmann de Lange Syndrome Brackmann de Lange Syndrome Congenital Muscular Hypertrophic Cerebral Syndrome Cornelia de Lange Syndrome De Lange's Syndrome Typus Degenerativus Amstelodamensis If you search Medline or Embase with this term you may find the details you are looking for. Alternatively, an internet search engine such as Google.

75. AusPharmList 012003/152 Cornelia de lange syndrome (not Cornelius). Posted 18/01/2003 by Tony Wiss. MonikaOgilvie wrote Has anyone heard of Cornelius de lange syndrome? http://www.auspharmlist.net/2003/012003/152.html

Cornelia de Lange syndrome (not Cornelius) Posted 18/01/2003 by Tony Wiss Monika Ogilvie wrote: "Has anyone heard of Cornelius de Lange Syndrome? I'd like to know more about this condition but cannot find anything in the literature. Any ideas?" After doing a bit of searching I found that it is Cornelia de Lange Syndrome The syndrome is sometimes abbreviated to CdLS and some references are also to de Lange Syndrome and others to Brachmann-de Lange syndrome Background: Cornelia de Lange syndrome (CDLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated malformations mainly involving the upper extremities. Cornelia de Lange first described it as a distinct syndrome in 1933, although Brachmann had described a child with similar features in 1916. Diagnosing CDLS in classic cases is usually straightforward, but diagnosing CDLS in milder cases may be challenging, even for an experienced clinician The above is from emedicine and is one of many found using the SumSearch engine on www.auspharmacist.net

76. 12398-cpr 23 May 1998 Cornelia de lange syndrome. I'm looking for information about Corneliade lange syndrome because we have a 10 yeras old child this syndrome. http://www.hum-molgen.de/clinical/23598-ncprr3.htm

HUM-MOLGEN DIAGnostics/Clinical Research 23 May 1998 Cornelia de Lange Syndrome I'm looking for information about Cornelia de Lange syndrome because we have a 10 yeras old child this syndrome. She has a high myopia and I'm not sure about her refraction and about the correction possibility. We are an ophtalmologist group and have never ever seen a case like this. Thanks for your attention. Risla Gomes rigomes@domain.com.br

77. Case Reports Cornelia de lange syndrome Discordance in Twins. Cornelia de lange syndrome (Brachmann_deLange syndrome) was originally reported in 1933 by Cornelia de Lange. http://www.indianpediatrics.net/dec-99/99-dec-13.htm

Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 1999;36:1267-1270 Cornelia de Lange Syndrome: Discordance in Twins Sheela S.R. From the Department of Pediatrics, Samaritan Hospital, Kizhakkambalam P.O., Alwaye 683 562, Ernakulam District, Kerala, India. Reprint requests: Dr. Sheela S.R., `Snehanjali', Seeveli Nagar, Kaithamukku, Thiruvanthapuram 695 024, Kerala, India. Manuscript Received: March 11, 1999; Initial review completed: April 8, 1999; Revision Accepted: July 13, 1999 It is extremely rare for Cornelia de Lange syndrome to occur in one of a pair of twins; only one such case has been reported so far(1). I am reporting this case because of its rarity. Case Report A 32-year-old mother, underwent Caesa-rean section for twin pregnancy with transverse lie. The first born of twins was a female baby weighing 1500 g with a gestational age of 34 weeks. Apgar score was 6 and 9 at 1 and 5 minutes, respectively. The other twin was a perfectly normal male baby weighing 2.75 kg. The elder sibling is a normal female child who is 5 years old. There is no family history of consanguinity. Physical examination of the first twin revealed a 34 week preterm SGA baby weighing 1500 g, with a length of 38 cm and a head circumference of 27 cm. Baby was hirsute, with excess hair over the forehead and ears and upper back, with a low posterior hair line; she had bushy eyebrows and synophrys, and long curly eyelashes. The face showed anteverted nostrils and a long philtrum; the lips were thin with a small midline beak of the upper lip and a corresponding notch in the lower lip, with a downward curving of the angle of the mouth (

78. Index CORNELIA de lange syndrome A CASE REPORT. Aynur OÐUZ Key WordsCornelia de lange syndrome, Children. INTRODUCTION. Cornelia de http://www.med.gazi.edu.tr/journal/1997_4_174_176.html

Table of contents CORNELIA DE LANGE SYNDROME : A CASE REPORT Aynur OÐUZ, M.D., Aysun BÝDECÝ, M.D., Sedef TUNAOÐLU, M.D., Rana OLGUNTÜRK, M.D., Alev HASANOÐLU, M.D., Mustafa YILDIRIM, M.D. Gazi University, Faculty of Medicine, Department of Pediatrics, Ankara, Turkey Gazi Medical Journal 1997; 8 : 174-176 SUMMARY An eleven - month - old male patient with dismorphic face, thick and curly hair, abnormally low placed ears, cleft palate, short back, low hair line, as well as hypospadias, cryptoorchidism, bilateral inguinal hernia, and phocomelia of the upper extremites was considered to have Cornelia de Lange syndrome. He had the combination of patent ductus arteriosus (PDA), tricuspid valve insufficiency, and bicusbid aortic valve as the cardiac anomalies, which haven't been reported to our knowledge in the literature before. Key Words : Cornelia de Lange Syndrome, Children.

79. Searchalot Directory For Cornelia De Lange Syndrome Sponsored Links. Top Health Conditions and Diseases Neurological DisordersChromosomal Cornelia de lange syndrome (4). Related Web Sites. http://www.searchalot.com/Top/Health/ConditionsandDiseases/NeurologicalDisorders

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Neurological Disorders ... Chromosomal : Cornelia De Lange Syndrome Related Web Sites Baylee's Web Suite: Cornelia de Lange Syndrome - Specially geared towards new parents, family and friends of CdLS children. Information about the disease as well as Baylee's personal progress. The CaF Directory - A description of Cornelia de Lange syndrome, its inheritance patterns and pre-natal diagnosis. NORD - Cornelia de Lange Syndrome - Offers the synonyms, a general discussion and further resources. Pediatric Database - A definition of Cornelia de Lange syndrome, the epidemiology, history, clinical features, organ malformations, investigations and management.

80. Congenital, Hereditary, And Neonatal Diseases And Abnormalities Comprehensive list of links from Karolinska Institutet, Sweden.Category Health Nursing Specialties Neonatal...... de lange syndrome Cornelia de lange syndrome Foundation, Inc. (US); CdLS (Corneliade lange syndrome) Online Support Group; Jessica's Place (CdLS) - (US); http://www.mic.ki.se/Diseases/c16.html

search help staff Congenital, Hereditary, and Neonatal Diseases and Abnormalities (including Pediatrics) Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Alphabetical List of Diseases Search PubMed at NCBI/NLM The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping P Murphy Human Disease Maps J Frezal ] - GENATLAS (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com Prenatal Diagnosis GR DeVore ] - Fetal.Com Prenatal Diagnosis [images; EC Klatt PEDIATRICS Harriet Lane WWW Links ('Pediatric Points of Interest') CU Lehmann ] - Johns Hopkins U. Child and Teen Health Topics - Medline Plus , NLM(US) Acute Pediatric Care - Univ of Minnesota (US) Children's Hospital Handbook, 1999

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