Langer-Giedion Syndrome Self Help Clearinghouse. langergiedion syndrome. langer-giedion syndrome Association. International network. WRITE langer-giedion syndrome Assn. 89 Intham Ave. http://www.bchealthguide.org/kbase/shc/shc29lan.htm
Extractions: The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in the American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org
Trichorhinophalangeal Syndrome Type II General Discussion. Trichorhinophalangeal Syndrome Type II (TRPS2), also known as langergiedion syndrome, is an extremely rare inherited multisystem disorder. http://www.bchealthguide.org/kbase/nord/nord1074.htm
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: Trichorhinophalangeal Syndrome Type II (TRPS2) is a rare multisystem disorder characterized by fine, thin hair; unusual facial features; short stature; abnormalities of the hands and feet; and/or development of multiple bony growths (exostoses) projecting outward from the surfaces of various bones of the body. Other characteristic abnormalities may include mental retardation, diminished muscle tone (hypotonia), and/or skin abnormalities. The range and severity of symptoms may vary from case to case.
Langer-Giedion Syndrome langergiedion syndrome. langer-giedion syndrome is named after the two doctors who undertook the main research into the condition in the 1960s. http://www.sciencedaily.com/encyclopedia/langer_giedion_syndrome
Extractions: Front Page Today's Digest Week in Review Email Updates ... Outdoor Living Main Page See live article Langer-Giedion syndrome is named after the two doctors who undertook the main research into the condition in the 1960s. It is a very rare condition and diagnosis is usually made at birth or in early childhood. The syndrome is caused by a small deletion of chromosomal material. In Langer-Giedion syndrome a small piece of the eighth chromosomes long arm is missing, comprising a number of genes
Extractions: Front Page Today's Digest Week in Review Email Updates ... Facial Differences Langer-Giedion Syndrome (2 links) See Also: News about Langer-Giedion Syndrome New Cardiac Arrhythmia Syndrome Identified (June 1, 2004) full story Silence Of The Genes: Researchers Provide Unique View Of Inherited Disorders And Cancer (June 1, 2004) full story UW-Madison Scientists Find A Key To Cell Division (May 28, 2004) full story Vaccines Against Foodborne Disease On Horizon (May 25, 2004) full story Discovery Of Gene For Cornelia De Lange Syndrome Discovery May Lead To Prenatal Test For Debilitating Disorder (May 20, 2004) full story [ More news about Langer-Giedion Syndrome
Langer-Giedion, Syndrome : Sites Et Documents Francophones Translate this page Langer-Giedion, syndrome. Menu général CISMeF. Arborescence(s) du thesaurus MeSH contenant le mot-clé Langer-Giedion, syndrome langer-giedion syndrome http://www.chu-rouen.fr/ssf/pathol/langergiedionsyndrome.html
Extractions: Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; signes de la maladie, autres sites internet, dysmorphologie, maladies osseuses, conseil génétique, laboratoires de diagnostic, réseaux de professionnels, associations de patients ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2002 ; visité le : 18/09/2003].
Support Groups Langer-Giedion Syndrome Support Groups langergiedion syndrome. langer-giedion syndrome Association - An international network of families and professionals http://www.ability.org.uk/support_groups_LG_syndrome.html
Extractions: "see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z Support Groups Langer-Giedion Syndrome Langer-Giedion Syndrome Association - An international network of families and professionals dedicated to providing information and support to people affected by Langer-Giedion Syndrome. To provide support through information on diagnosis, treatments and life issues; to connect families; and to advocate for continued research on Langer-Giedion Syndrome. The Wells Lab Langer Giedion Syndrome Home Page - The goal of this page is to consolidate information and resources on Langer Giedion Syndrome. It will be updated as often as possible. I hope it will be a site that research scientists, clinicians, M.D.'s as well as affected individuals and their families will find useful. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Webmaster . Site Design by Ability "see the ability, not the disability"
Extractions: TRPS I Trichorhinophalangeal Syndrome Type I (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by thin, sparse scalp hair, unusual facial features, abnormalities of the fingers and/or toes, and multiple abnormalities of the "growing ends" (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. Characteristic facial features may include a rounded (bulbous) "pear-shaped" nose, an abnormally small jaw (micrognathia), dental anomalies, and/or unusually large (prominent) ears.
Extractions: helpful? yes no Langer-Giedion syndrome: Trichorhinophalangeal syndrome Type II Langer-Giedion syndrome (LGS) is named after the two doctors who undertook the main research into the condition in the 1960s. It is a very rare condition and diagnosis is usually made at birth or in early childhood. LGS is caused by a small deletion of chromosomal material. A chromosome is a thread-like structure which is present in the nucleus of all body cells. The chromosomes carry the genes which are the instructions about how to make a new baby from a sperm and an egg. Genes are 'strung' along chromosomes rather like beads are strung along a necklace. In LGS a small piece of the 8th chromosome is missing (or deleted) comprising a number of genes. The loss of these genes is responsible for some of the overall characteristics of LGS. The features associated with this condition include mild to moderate learning difficulties, short stature, unique facial features, small head (microcephaly) and skeletal abnormalities including bony growths projecting from the surfaces of bones. These may include benign bony growths on various bones of the body or cone-shaped extensions on the growing ends (epiphyses) of certain bones, particularly in the hands, and specific craniofacial features. Typically individuals with LGS have fine scalp hair, ears which may be large or prominent, broad eyebrows, deep-set eyes, bulbous nose, long narrow upper lip and missing teeth.
Langer-Giedion Syndrome Submit Your Site to the langergiedion syndrome category. Submit Your Site to the langer-giedion syndrome category. Sponsored Results. Health Spotlight. http://www.iseekhealth.com/langer-giedion_syndrome-5610.php
Langer-Giedion Syndrome langergiedion syndrome. Self Help Clearinghouse. langer-giedion syndrome Association. International network. Founded http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=shc29lan
Extractions: FISH ANALYSIS Open Page in New Window Print This Page Return to Search The Kleberg Cytogenetics Laboratory offers a fluorescence in situ hybridization (FISH)-based assay for identifying the microdeletions on 8q24.1 associated with Langer-Giedion syndrome (LGS) and trichorhinophalangeal syndrome (TRPSI). Both syndromes exhibit significant phenotypic variability and most likely represent a contiguous gene deletion syndrome, with the deletion causing LGS including a gene for multiple exostoses ( ). The deletion causing trichorhinophalangeal syndrome includes the gene TRPSI Clinical Features: Langer-Giedion syndrome is characterized by unusual facial features, mental retardation and multiple exostoses. Trichorhinophalangeal syndrome is limited to the facial features and cone-shaped epiphyses seen in LGS. Most TRPSI patients do not have mental retardation or exostoses. Reasons for Referral:
Trichorhinophalangeal Syndrome (TRPS1) - FISH Analysis The phenotype is variable and may overlap with the phenotype of langergiedion syndrome (LGS), however, trichorhinophalangeal syndrome is limited to the facial http://www.bcmgeneticlabs.org/tests/cyto/trichorhinophalangeal.html
Extractions: FISH ANALYSIS Open Page in New Window Print This Page Return to Search The Kleberg Cytogenetics Laboratory offers a fluorescence in situ hybridization (FISH)-based assay for identifying the microdeletion on chromosome 8q24.1 associated with trichorhinophalangeal syndrome, type I (TRPSI). Clinical Features: Trichorhinophalangeal syndrome (TRPSI) is characterized by craniofacial anomalies, sparse hair, and cone-shaped epiphyses. The phenotype is variable and may overlap with the phenotype of Langer-Giedion syndrome (LGS), however, trichorhinophalangeal syndrome is limited to the facial features and cone-shaped epiphyses seen in LGS. Most TRPSI patients do not have mental retardation or exostoses.
Langer-Giedion Syndrome Ailment Name langergiedion syndrome. Join this Community get help by emailing and chatting to others, and sharing information and experiences, http://www.thirdaid.com/conditions/Langer-Giedion_Syndrome.htm
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ORPHANET - Rare Diseases - Orphan Drugs Warning, Site map, Contact, Order the Orphanet book, Printing version, DISEASE langergiedion syndrome, Synonym(s) Trichorhinophalangeal syndrome type 2, ICD Q87.8, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=502
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Langer=-Giedion Syndrome langergiedion syndrome. (Trichorhinophalangeal Syndrome, Type II). This Syndrome can also go under the name of langer-giedion syndrome . http://www.dickibus.co.uk/lgs.htm
Extractions: stand still and he obeyed him. Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome, Type II) This Syndrome can also go under the name of "Langer-Giedion Syndrome". A good patient's (non-jargon) description of it can be found at http://wimp.nsm.uh.edu/LGS-GD.html , and a doctor's (very jargony) description at http://wimp.nsm.uh.edu/lgs.html . The Home Page centring on LGS ican be found at http://wimp.nsm.uh.edu/LGS.htm l (University of Houston). Basically, I think (and I am not a qualified MD - in fact, I never even studied Biology at school... preferred Physics and Chemistry instead.. all 4-7 years of it!) that it occurs when one gene, or a part of it, is missing. In other words, it's a genetically based condition. It comes in two parts..... EXT1, which causes growths (benign cancers?) on bones, and another (named TRPSI by the medical/gene world) which puts a sort of a cone onto some of the growing ends of the bones. What happens when the kid grows up, and stops growing, I have yet to find out! There are other signs which some, but not all, patients have... such as being short, having folds in their skins when they're still kids (young kids, at that), and (sometimes) double-jointedness. To have one, two, or even all of these body traits is not to say "LGS", but rather that someone with LGS is more liable to also fit one or more of these descriptions.
Langer-Giedion Syndrome The New Health Directory, Directory, Home Health Support Groups Conditions and Diseases Facial Differences langergiedion syndrome (2) See Also http://www.thenewhealthfind.com/Health/SupportGroups/ConditionsandDiseases/Facia
Health Library - groups. langergiedion syndrome. Self Help Clearinghouse. langer-giedion syndrome Association. International network. Founded http://12.42.224.152/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29lan
Langer-Giedion Syndrome Association langergiedion syndrome Association. 89 Ingham Avenue CA W4K 2W8 Toronto, ON W4K 2W8 Conditions langer-giedion syndrome. Hours Answered 9-9 Voicemail yes. http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Lang