61. 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.

62. 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).

63. 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

64. 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:

65. Cornelia De Lange Syndrome cornelia de lange syndrome. (2002). Definition Resources · cornelia de lange syndrome Foundation. · Smith’s Recognizable Patterns of Human Malformation. 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. 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

67. 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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68. Références Intéressantes Sur Le Syndrome Cornelia De Lange Références intéressantes sur le syndrome Cornelia De Lange (interesting references of cornelia de lange syndrome). cornelia de lange syndrome. http://www.er.uqam.ca/nobel/d341460/References/ref_Cornelia.htm

Références intéressantes sur le syndrome Cornelia De Lange (interesting references of Cornelia De Lange syndrome) Par Sophie Méthot Cates, M., Billmire, D.F.. Bull, M.J.. Grosfeld, J.L. (1989). Gastroesophageal dysfunction in Cornelia de Lange syndrome. Journal of Pediatric Surgery, 24(3): 248-50 Goodban, M.T. (1993). Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome. American Journal of Medical Genetics, 15; 47(7): 1059-63 Gualtieri, C.T. (1989). The differential diagnosis of self-injurious behavior in mentally retarded people. Psychopharmacological Bulletin, 25(3): 358-63 Kliewer, M.A. Kahler, S.G., Hertzberg, B.S., Bowie, J.D. (1993). Fetal biometry in the Brachmann-de Lange syndrome. American Journal of Medical Genetics, 47(7): 1035-41 Kline, A.D., Barr, M., Jackson, L.G. (1993). Growth manifestations in the Brachmann-de Lange syndrome. American Journal of Medical Genetics, 47(7): 1042-9 Sarimski, K. (1997). Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome. Journal of Intellectual Disability Research,41 ( Pt 1): 70-5 Clinical Neuropathology, 18(2): 99-105

69. 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.

70. Healthfinder® — Cornelia De Lange Syndrome Foundation, Inc. The cornelia de lange syndrome Foundation is an organization dedicated to ensuring early and accurate diagnosis of CdLS ( a congenital syndrome, present from http://www.healthfinder.gov/orgs/HR2107.htm

health library just for you health care organizations search: help Cornelia de Lange Syndrome Foundation, Inc. organization URL(s) info@cdlsusa.org www.cdlsusa.org other contact information 302 West Main Street #100 Avon, CT 06001 800-223-8355 (Voice - Toll-free) 800-753-2357 (Voice - Toll-free) 860-676-8166 (Voice) 860-676-8337 (FAX) description The Cornelia de Lange Syndrome Foundation is an organization dedicated to ensuring early and accurate diagnosis of CdLS ( a congenital syndrome, present from birth, that usually results in significant delays in growth and development), promoting research, and enabling families, friends, and professionals to make informed decisions and plan for the affected person's present and future. Services include a Family Support Program supplemented by regional gatherings and coordinators; a Scientific Advisory Committee which offers professional expertise to families at no cost. Conference held annually for families and professionals. Hours of operation are from 8am-5pm EST, Monday-Friday; answering machine at all other times. print resources The Foundation publishes several brochures on the syndrome and a membership directory. Free information available, along with publication and audio/video resource list. Serial publication: Reaching Out (newsletter), bimonthly16 page membership news, letters, and advice from parents on management of the syndrome's problems.

71. 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

72. 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

73. 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

74. Database Search Results and Human Services.. Searched keywords for cornelia de lange syndrome. cornelia de lange syndrome Foundation, Inc. NHIC Home Page http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Cornelia de Lange Syn

75. 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

76. Cornélia De Lange (syndrome De) Translate this page réalisée par Jackson et coll. en 1993, en association avec la cornelia de lange syndrome Foundation. Causes Elles ne sont pas http://www.vulgaris-medical.net/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.

77. NICHD Funded Researchers Discover Gene For Cornelia De Lange Syndrome Discovery May Lead to Prenatal Test For Debilitating Disorder A team of researchers has discovered a gene for cornelia de lange syndrome, a disorder consisting http://www.innovations-report.de/html/berichte/medizin_gesundheit/bericht-29261.

Weitere Förderer des Forums Content Partner des Forums Medizin Gesundheit National Institute of Child Health and Human Development NICHD Funded Researchers Discover Gene for Cornelia De Lange Syndrome Discovery May Lead to Prenatal Test For Debilitating Disorder A team of researchers has discovered a gene for Cornelia de Lange Syndrome, a disorder consisting of mental retardation, heart defects and a number of physical abnormalities. The researchers were funded by the National Institute of Child Health and Human Development, one of the National Institutes of Health. The researchers expect the discovery to speed the development of a prenatal genetic test for the syndrome. A similar test will also be developed to diagnose Cornelia de Lange Syndrome in young children suspected of having the disorder. The study was published on May 16 in the online edition of Nature Genetics. "The discovery of the gene for Cornelia de Lange Syndrome also offers the chance to learn more about the disorder, and perhaps to develop new treatments for it," said Duane Alexander, M.D., Director of the NICHD. Named for the Dutch physician who first described it in 1933, Cornelia de Lange Syndrome involves a complex of symptoms. These include mental retardation, self-injurious behavior, impaired growth, heart defects, hearing loss, and abnormalities of the fingers and hands. Individuals with Cornelia de Lange Syndrome also have distinctive facial features, such as thin eyebrows that meet in the middle of the forehead, long eyelashes, thin, down-turned lips, and excessive body hair. According to the study authors, Cornelia De Lange Syndrome occurs in one of every 10,000 individuals.

78. 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

79. IHC | Forum Show Message. Name Laws Subject cornelia de lange syndrome Date 4/12/2003 114914 AM. Forum Threads. re cornelia de lange syndrome Cherie 5/12/03 152419. http://www.ihc.org.nz/news/result.asp?id=441&fid=14&tid=0

80. IHC | Forum Show Message. Name Cherie Subject cornelia de lange syndrome Date 5/12/03 152419. re cornelia de lange syndrome Cherie 5/12/03 152419 You are here. http://www.ihc.org.nz/news/result.asp?id=445&fid=14&tid=441

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