61. GuideStar - Search - Search Results - Cornelia De Lange Syndrome Foundation, Inc Cornelia de lange syndrome Foundation, Inc. 302 W Main St 100 Avon, CT 06001 The CdLS Foundation is a family support organization http://www.guidestar.org/controller/searchResults.gs?action_gsReport=1&ein=06-10

62. Brachmann De Lange Syndrome - General Practice Notebook Brachmann de lange syndrome. Brachmann de lange syndrome is characterised by small hirsute babies with microencephaly. Characteristic features include 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...

63. Cornelia De Lange Syndrome CORNELIA de lange syndrome (CDS). AKA de lange syndrome 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).

64. Congenital, Hereditary, And Neonatal Diseases And Abnormalities de lange syndrome. Cornelia de lange syndrome Foundation, Inc. (US). CdLS (Cornelia de lange syndrome) Online Support Group. Jessica s Place (CdLS) - (US). http://www.mic.ki.se/Diseases/C16.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alert! 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. Start Page Contents: Abnormalities Aicardi Syndrome (not on MeSH) Amniotic Band Syndrome Anencephaly ... Wolf-Hirschhorn Syndrome (not on MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities 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] GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com

65. Cornelia De Lange Syndrome Cornelia de lange syndrome. The syndrome is also referred to as Brachmannde lange syndrome after Dr. W. Brachmann, who described a similar patient in 1916. http://www.genesoc.com/counseling/Outlines/corneliadelangesyndrome.htm

Resources for Genetic Counselors site updated May 10, 2004 outlines links search Cornelia de Lange Syndrome Definition: Cornelia de Lange Syndrome is a rare developmental malformation syndrome characterized by mental retardation, short stature, limb abnormalities, and distinctive craniofacial features. Within the phenotypic pattern, there is a wide range of severity (from mildly to severely affected). “Classical” refers to children who are severely growth retarded and “mild” refers to those with less severe growth problems and less developmental delay. Historical significance: In 1933, a Dutch pediatrician, Dr. Cornelia de Lange, described 2 children with similar features. The syndrome is also referred to as Brachmann-de Lange Syndrome after Dr. W. Brachmann, who described a similar patient in 1916. Diagnosis: no diagnostic biochemical, cytogenetic, or molecular abnormalities medical evaluation (history and physical exam showing distinctive craniofacial features) family history laboratory tests (chromosome analysis) X-rays Symptoms: low birthweight (under 5 lbs.) due to prenatal onset growth deficiency

66. Cornelia De Lange Syndrome Directory of charities and support organisations providing support and information on cornelia de lange syndrome. Home Category Cornelia de lange syndrome http://www.supportfind.com/category/corn01.asp

Home Category Cornelia de Lange Syndrome Cornelia de Lange Syndrome Foundation Essex, United Kingdom The CdLS Foundation exists to ensure early and accurate diagnosis of CdLS ; promote research into the causes and manifestations of the syndrome and help people with a diagnosis of CdLS to make informed decisions throughout their lifetime. http://www.cdls.org.uk The information on Supportfind.com is intended to provide general information and should not be used to diagnose or treat a health problem or disease. Further access to this site is under the condition that you agree to abide by the terms and conditions as laid out in the Do not use the information found on Supportfind.com as a substitute for professional evaluation and treatment. Supportfind.com Home Search Directory Information ... Top

67. NetDoctor.co.uk - Support Groups , Cornelia de lange syndrome (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

68. Cornelia De Lange Syndrome Selected medical images OMIM Cornelia de lange syndrome. Cornelia de lange syndrome; Cornelia de lange syndrome Discordance in Twins; http://www.gfmer.ch/Genetic_diseases/Cornelia_de_Lange_syndrome/Cornelia_de_Lang

Selected medical images OMIM Cornelia de Lange syndrome Cornelia De Lange syndrome Cornelia de Lange syndrome: Discordance in Twins Sources Indian Pediatrics Print this page Edited by Aldo Campana, August 13, 2003

69. Sindrome Cornelia De Lange Syndrome Bambi Sindrome di Cornelia De Lange Cornelia de lange syndrome. http//www.abanet.it/imagitronica/CdL/guidacdl.html http//www.uildm.org/opuscoli/altre/delang.htm http http://antares.fastnet.it/enti/bambi/sindrome-corneliadelange.htm

Sindrome di Cornelia De Lange Cornelia De Lange Syndrome http://www.abanet.it/imagitronica/CdL/guidacdl.html http://www.uildm.org/opuscoli/altre/delang.htm http://www.caba.it/imagitronica/CdL/guidacdl.html http://utenti.tripod.it/fmfpc/associaz.htm ... http://www.malattiemetaboliche.it/regioni/marche.htm trada.it http://lamira.com/Salud_y_medicina/Enfermedades/Sindrome_de_cornelia_de_lang e/index.shtml http://www.geocities.com/HotSprings/Villa/4521/cornelia/ http://www.cdlsoutreach.org/ http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?122470 http://www.stepstn.com/nord/org_sum/124.htm ... http://www.answersleuth.com/health/diseases/0399/cornelia_de_lange_syndrome .shtml http://www.healthlinkusa.com/cornelia_de_lange_syndrome.htm http://www.star-city.com/baylee/index.html http://www.geocities.com/Heartland/Plains/1508/ http://www.cdls-support.org/ ... http://uk.dir.yahoo.com/Health/Diseases_and_Conditions/Cornelia_de_Lange_Syn drome http://www.kumc.edu/gec/support/cornelia.html http://www.thefetus.net/sections/articles/Syndromes/Cornelia_de_Lange_Jeanty .html http://www.ntdlaboratories.com/cornelia_de_lange_syndrome.htm

70. Health, Conditions And Diseases, Neurological Disorders, Chromosomal: Cornelia D Baylee s Web Suite Cornelia de lange syndrome Specially geared towards new parents, family and friends of CdLS children. Information http://www.combose.com/Health/Conditions_and_Diseases/Neurological_Disorders/Chr

Top Health Conditions and Diseases Neurological Disorders ... Cornelia De Lange Syndrome Related links of interest: Health:Conditions and Diseases:Genetic Disorders Health:Conditions and Diseases:Rare Disorders 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. 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. The CaF Directory - A description of Cornelia de Lange syndrome, its inheritance patterns and pre-natal diagnosis. 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. Help build the largest human-edited directory on the web.

71. Medical Experts - Cornelia De Lange Syndrome Medical Experts Cornelia de lange syndrome. Physicians For Quality. Maxwell, Texas Contact Ms. Kim Blackson Tel 800284-3627, Fax http://www.hg.org/experts/Medical-Experts-Cornelia-de-Lange-Syndrome.html

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

73. Indian Pediatrics - Editorial Indian Pediatrics 2002; 3910561057. Cornelia de lange syndrome. Clinical diagnosis of Cornelia de lange syndrome was entertained. Fig. http://www.indianpediatrics.net/nov2002/nov-1056-1057.htm

74. PharmGKB: De Lange Syndrome de lange syndrome. Alternate Names Amstelodamensis, Typus Degenerativus; Brachmann de lange syndrome; Brachmannde lange syndrome http://www.pharmgkb.org/do/serve?objId=PA443839&objCls=Disease

75. Health Library - Cornelia de lange syndrome. None. General Discussion. Cornelia de lange syndrome (CdLS) is a rare genetic disorder that is apparent at birth (congenital). http://yourhealth.stlukesonline.org/library/healthguide/IllnessConditions/topic.

76. 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 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

77. EPEC - Educating Parents Of Extra-special Children - Cornelia De Lange Syndrome EPEC Educating Parents of Extra-special Children - Cornelia de lange syndrome (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:

78. Cornelia De Lange Syndrome Foundation, Inc. Return to Search Page Cornelia de lange syndrome Foundation, Inc. Conditions Cornelia de lange syndrome (CdLS). Hours Answered 9am 5pm, EST Voicemail yes. http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Corn

79. Mental Help Net - 72 - News - Gene Discovered For Cornelia De Lange Syndrome, A Gene Discovered for Cornelia de lange syndrome, a Disabling Genetic Disease (PRNewswire) PHILADELPHIA, May 17 /PRNewswire/ An http://www.mentalhelp.net/poc/view_doc.php?type=news&id=54601&cn=72

80. Health Information Resource Database: Cornelia De Lange Syndrome Foundation, Inc Services.. Cornelia de lange syndrome Foundation, Inc. Contact Information. Director 302 West Main Street 100 Avon, CT 06001. 800 http://www.health.gov/nhic/NHICScripts/Entry.cfm?HRCode=HR2107

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