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

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search 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:

22. 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 CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases de Lange Syndrome Last Updated: December 19, 2002 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 Associate Professor, Dermatology and Pediatrics, UMDNJ-New Jersey Medical School Editor(s): Albert C Yan, MD , Assistant Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania;

23. Cornelia De Lange Syndrome - Description And Links What is Cornelia de lange syndrome (CdLS)? Further information is availablefrom 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.

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

Home List categories Eponyms A-Z Biographies by country ... Contact 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.

25. Bruck-de Lange Disease (www.whonamedit.com) deficiency. Also known as Bruckde lange syndrome,Cornelia de Lange’ssyndrome II,de Lange's disease,Lange's syndrome II. Who named it? http://www.whonamedit.com/synd.cfm/1081.html

Home List categories Eponyms A-Z Biographies by country ... Contact 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. Bibliography: F. Bruck:

26. 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

27. De Lange, Syndrome : Sites Et Documents Francophones Translate this page De Lange, Syndrome. Menu général CISMeF. Arborescence(s) du thesaurusMeSH contenant le mot-clé De Lange, syndrome de lange syndrome http://www.chu-rouen.fr/ssf/pathol/delangesyndrome.html

De Lange, Syndrome Menu général CISMeF Synonyme(s) cornelia de lange, syndrome ; syndrome de lange Voir aussi retard mental Arborescence(s) De Lange, syndrome De Lange syndrome maladies et malformations congénitales, héréditaires et néonatales système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : patient AFSCDL - Association Française du Syndrome de Cornelia de Lange [Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; ; langue : français ; format : html ; accès : gratuit ; non parrainé ; visité le : 13/12/2000]. mots clés : * De Lange, syndrome type(s) : association patients texte Syndrome de Cornelia de Lange [Par M. Roger D, M. Dufort JY. Site éditeur Centres Butters-Savoye et Horizon ; langue : français ; format : html ; accès : gratuit ; non parrainé ; visité le : 13/12/2000].

28. 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

29. 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

30. 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

31. 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.

32. 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.

33. 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

34. Cornélia De Lange (syndrome De) Translate this page Cornélia de Lange (syndrome de). Synonymes SCDL coll. en 1993, enassociation avec la Cornelia de lange syndrome Foundation. Causes http://www.vulgaris-medical.com/textc/cornelia.html

Cornélia de Lange (syndrome de) Synonymes : SCDL, syndrome Brachmann, typus amstelodamensis. Syndrome rare (fréquence de l'ordre de 1 pour 20 000 naissances) décrit par un professeur de pédiatrie : Cornelia de Lange, pédiatre hollandaise. Ce syndrome est un ensemble d'anomalies qui se caractérisent par des malformations du visage associées à un retard de croissance avant et après la naissance. D'autre part, les enfants atteints du syndrome de Cornelia de Lange présentent un retard intellectuel plus ou moins marqué et quelquefois des anomalies des membres supérieurs. Le docteur Cornelia de Lange était professeur à Amsterdam où elle décrit pour la première fois en 1933 les signes cliniques de deux jeunes filles présentant les anomalies du syndrome connu aujourd'hui sous le nom de syndrome de Cornelia de Lange ou syndrome de Brachmann-de Lange (SBdL) en mémoire au Dr Brachmann, un Allemand qui en 1916 a décrit les résultats d'une autopsie faite sur un enfant qui présentait des défauts sévères touchant le cubitus et les mains (qui n'avaient qu'un seul doigt) associés au syndrome (ensemble de signes) décrits ci-après. On distingue habituellement la forme classique (forme sévère) et la forme modérée. Les signes décrits ci-après tiennent compte de l'étude clinique sur 310 individus qui ait été réalisée par Jackson et coll. en 1993, en association avec la Cornelia de Lange Syndrome Foundation.

35. 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

36. 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

37. 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).

38. Pediatric References Cornelia de lange syndrome. 1994. Barr MA. Koch S. de lange syndrome a clinicalreview of 310 individuals. American Journal of Medical Genetics. 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.

39. Cordelia De Lange Syndrome Association (Australasia) Inc. - CdLSA Newsletter of the information provided. UCE policy. Cordelia de lange syndromeAssociation (Australasia) Inc. © 2003. All rights reserved. http://cdlsa.e-newsletter.com.au/

Hello again, in this issue: archive new subscriber sign up first name last name email company send to a friend your name friend's email powered by WEBSITE PH: +61 2 6231 6866 159 Boddington Crescent, Kambah ACT 2902, Australia This e-newsletter is published to provide relevant information regarding our activities. We take no responsibility for inaccuracies or errors and will not be held responsible for any actions that may arise from the use of the information provided. UCE policy

40. Cordelia De Lange Syndrome Association (Australasia) Inc. - CdLSA Newsletter CdLSA Newsletter. No records found. http://cdlsa.e-newsletter.com.au/index.php?type=0&archive=1

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