21. Missing Genes Child's Doctor Spring 2000. In the langergiedion syndrome (trichorhinophalangeal syndrome, type II), there is deletion of the TRPS1 gene and adjacent contiguous genes http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

22. OMIM - LANGER-GIEDION SYNDROME; LGS http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150230

23. Entrez PubMed Less than 50 cases of langergiedion syndrome (also known as They must considerthe diagnosis of langer-giedion syndrome to facilitate the treatment of http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9

24. Langer-Giedion Syndrome langergiedion syndrome Association An international network of families The Wells Lab Langer Giedion Syndrome Home Page The goal of this page is to http://www.reference.com/Dir/Health/Consumer_Support_Groups/Facial_Differences/L

Dictionary Thesaurus Encyclopedia Web Home Premium: Sign up Login YOUR AD HERE Dictionary ... Encyclopedia - Web Directory Web Directory Top Health Consumer Support Groups Facial Differences / 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 Lexico Publishing Group, LLC ... Contact Us

25. LANGER-GIEDION SYNDROME: Contact A Family - For Families With Disabled Children: Contact a Family is a UK charity for families with disabled children. We offerinformation on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/l14.html

printer friendly LANGER-GIEDION SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page 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.

26. Langer Giedion Syndrome langergiedion syndrome Association - An international network of families andprofessionals dedicated The Wells Lab Langer Giedion Syndrome Home Page http://www.ability.org.uk/Langer_Giedion_Syndrome.html

Our Aims Services Stats ... Z Langer Giedion Syndrome Langer-Giedion Syndrome Association - An international network of families and professionals dedicated to providing information and support to people. The Wells Lab Langer Giedion Syndrome Home Page Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

27. Trichorhinophalangeal Syndrome Type II Langer Giedion Syndrome; TRPS2. Disorder Subdivisions langergiedion syndromeAssociation 89 Ingham Avenue Toronto Ontario, M4K 2W8 http://my.webmd.com/hw/health_guide_atoz/nord1074.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Trichorhinophalangeal Syndrome Type II Important It is possible that the main title of the report Trichorhinophalangeal Syndrome Type II 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. Synonyms Langer Giedion Syndrome Disorder Subdivisions None General Discussion Resources National Foundation for Ectodermal Dysplasias 410 East Main Street PO Box 114 Mascoutah, IL 62258-0114 Tel: (618)566-2020 Fax: (618)566-4718 Email: info@nfed.org Internet: http://www.nfed.org March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605

28. Index langergiedion syndrome langer-giedion syndrome Association - Langer-GiedionSyndrome Laryngectomy Late Onset Tay-Sachs Foundation - Tay-Sachs Disease http://my.webmd.com/hw/index/index-shc-L.asp

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29. Langer-Giedion Syndrome Information Diseases Database langergiedion syndrome,Trichorhinophalangeal syndrome type 2, Disease DatabaseInformation. http://www.diseasesdatabase.com/ddb31949.htm

Diseases Database Index Sponsors Contact ... Previous Page Langer-Giedion syndrome information Search 2 synonyms or equivalents were found. Langer-Giedion syndrome aka/or Trichorhinophalangeal syndrome type 2 may cause or feature (Follow link for list.) belong(s) to the category of (Follow link for list.) Langer-Giedion syndrome: Definition(s) via UMLS Code translations and terms via UMLS Langer-Giedion syndrome: specific web sites Send Langer-Giedion syndrome to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-09 10:00:33 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Content is not asserted complete or error free, please see also our

30. Langer-Giedion Syndrome (LGS) - FISH Analysis The Kleberg Cytogenetics Laboratory offers a fluorescence in situhybridization (FISH)based assay for identifying the microdeletion on 8q24.1 associated http://www.bcmgeneticlabs.org/tests/cyto/langergiedion.html

LANGER-GIEDION SYNDROME (LGS) 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: FISH can be used to detect deletions in patients with a suspected diagnosis of LGS or TRPS1. Prenatal diagnosis may be performed if an affected family member has been studied in our laboratory and shown to have a deletion detectable by FISH.

31. Trichorhinophalangeal Syndrome (TRPS1) - FISH Analysis may overlap with the phenotype of langergiedion syndrome (LGS), however, to detect the deletion of EXT1 associated with langer-giedion syndrome. http://www.bcmgeneticlabs.org/tests/cyto/trichorhinophalangeal.html

TRICHORHINOPHALANGEAL SYNDROME (TRPS1) 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. Reasons for Referral: FISH can be used to detect deletions in patients with a suspected diagnosis of TRPSI. Prenatal diagnosis may be performed if an affected family member has been studied in our laboratory and shown to have a deletion detectable by FISH. Please call regarding all prenatal samples.

32. Trichorhinophalangeal Syndrome Type II langergiedion syndrome Association 89 Ingham Avenue Toronto Ontario, M4K 2W8Canada Tel 4164653029 Fax 4164654963 Email lkinross@rogers.com http://www.bchealthguide.org/kbase/nord/nord1074.htm

var hwPrint=1;var hwDocHWID="nord1074";var hwDocTitle="Trichorhinophalangeal Syndrome Type II";var hwRank="1";var hwSectionHWID="nord1074-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Trichorhinophalangeal Syndrome Type II Important It is possible that the main title of the report Trichorhinophalangeal Syndrome Type II 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. Synonyms Langer Giedion Syndrome Disorder Subdivisions None General Discussion Resources Little People of America, Inc. P.O. Box 65030 Lubbock, TX 79464-5030 Tel: (806)687-1840 Fax: (806)687-1840 Tel: (888)572-2001 Email: lpadatabase@juno.com Internet: http://www.lpaonline.org NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases 1 AMS Circle Bethesda, MD 20892-3675 Tel: (301)496-8188 Fax: (301)718-6366 Tel: (877)226-4267 TDD: (301)565-2966 Email: NAMSIC@mail.nih.gov Internet: http://www.nih.gov/niams/

33. Langer-giedion Syndrome With Renal Cyst Kulkarni ML, Zaheeruddin M, Naveen RB, K Peerreviewed open access biomedical speciality periodical from India coveringvarious aspects of child health. http://www.ijppediatricsindia.org/article.asp?issn=0019-5456;year=2005;volume=72

34. Langer-giedion Syndrome With Renal Cyst,Kulkarni ML, Zaheeruddin M, Naveen RB, K Indian Journal of Pediatrics is an open access http://www.ijppediatricsindia.org/article.asp?issn=0019-5456;year=2005;volume=72

35. Birth Disorder Information Directory - L Langer Giedion Syndrome (Trichorhinophalangeal Syndrome, Type II). Langer GiedionSyndrome langergiedion syndrome Association langer-giedion syndrome; http://www.bdid.com/defectl.htm

HOME L Laband Syndrome See Zimmerman Laband Syndrome Lacrimal Duct Defect LACRIMAL DUCT DEFECT Lacrimoauriculodentodigital Syndrome (Levy Hollister Syndrome) LACRIMOAURICULODENTODIGITAL SYNDROME; LADD Lacunar Skull See Craniolacunia Ladda Zonana Ramer Syndrome (Contractures Ectodermal Dysplasia Cleft Lip Palate) Contractures ectodermal dysplasia cleft lip palate Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay Lambert Syndrome (Branchial Dysplasia Mental Retardation Inguinal Hernia) branchial dysplasia mental retardation inguinal hernia LAMBERT SYNDROME Landings Disease (GM 1 gangliosidosis) Landings Disease Landings Disease Landouzy-Dejerine Dystrophy See Facioscapulohumeral Muscular Dystrophy Langer Giedion Syndrome (Trichorhinophalangeal Syndrome, Type II) Langer Giedion Syndrome Langer-Giedion Syndrome Association LANGER-GIEDION SYNDROME; LGS Langer Mesomelic Dysplasia (Dyschondrosteosis, Homozygous; Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, and Mandible Type) LANGER MESOMELIC DYSPLASIA Langer Nishino Yamaguchi Syndrome (Brachymesomelia Renal Syndrome) brachymesomelia renal syndrome BRACHYMESOMELIA-RENAL SYNDROME Laron Syndrome (Pituitary Dwarfism II) PITUITARY DWARFISM II Larsen Syndrome Recessive LARSEN SYNDROME, RECESSIVE

36. Langer-Giedion Syndrome langergiedion syndrome Association - international support organization forpeople and families living with langer-giedion syndrome and related disorders. http://www.cannylink.com/diseaselangergiedionsyndrome.htm

Web www.CannyLink.com Langer-Giedion Syndrome Articles on LGS LGS General Description - layperson's terms. Langer-Giedion Syndrome Association - international support organization for people and families living with Langer-Giedion Syndrome and related disorders. Wells Lab - Langer-Giedion Syndrome Back to The Cannylink home page You can e-mail us at Webmaster@cannylink

37. Langer-Giedion Syndrome, Eastern Carolina langergiedion syndrome - University Health Systems of Eastern Carolina servestarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties in http://www.uhseast.com/117766.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Self-Help Resources Information about national and local self-help organizations and support groups. Langer-Giedion Syndrome This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Langer-Giedion Syndrome Association International network. Founded 1997. Provides mutual support for families affected by Langer-Giedion syndrome (aka trichorhinophalangeal syndrome Type II) and TRPS Type I. Works to promote research. Matches families together for support. Newsletter, phone support, advocacy. Dues $20. WRITE: Langer-Giedion Syndrome Assn. 89 Ingham Ave. Toronto, Ontario Canada M4K 2W8 CALL: 416-465-3029 Louise Kinross E-MAIL: lkinross@rogers.com WEBSITE: http://www.lgsa.net

38. Klippel-Feil Syndrome langergiedion syndrome The goal of this page is to consolidate information andresources on Langer Giedion Syndrome. It will be updated as often as http://www.doctorpage.com/findit/Diseases_and_Conditions/Langer_Giedion_Syndrome

doctorpage Diseases and Conditions Langer Giedion Syndrome Displaying listings 1-4 Langer-Giedion Syndrome 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. http://wimp.nsm.uh.edu/lgs.html Langer-Giedion Syndrome Association http://www.geocities.com/HotSprings/9308/ NORD - Trichorhinophalangeal Syndrome Type II Trichorhinophalangeal Syndrome Type II (TRPS2), also known as Langer-Giedion Syndrome, is an extremely rare inherited multisystem disorder. TRPS2 is characterized by fine, thin hair; unusual facial features; progressive growth retardation resulting in short stature (dwarfism); abnormally short fingers and toes (brachydactyly); "cone-shaped" formation of the "growing ends" of certain bones (epiphyseal coning); and/or development of multiple bony growths (exostoses) projecting outward from the surfaces of various bones of the body. NORD - Trichorhinophalangeal Syndrome Type II The information contained in the Rare Disease Database (RDB) is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you order the full text version of this report from NORD, you can contact the agencies listed in the Resources section for more detailed information and avenues to support. In addition, your personal physician may be able to provide details specific to your case.

39. LGCR - Langer-Giedion Syndrome Chromosome Region The following synonyms exist for gene LGCR (langergiedion syndrome chromosomeregion) LGS, TRPS2. The exclusive involvement of skeletal abnormalities http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/89830.html

Previously, linkage analysis has revealed a locus for EXT in the LGS region on chromosome 8q24. Abstract-8074145 The possible role of c-myc oncogene in exostoses' (including those in LGS ) origin is anticipated. Abstract-5488654 We report on two large pedigrees segregating EXT in which linkage to the LGS region was excluded. Abstract-8074145 1. Our analyses indicate that the LGCR is gene-poor, because none of the ESTs and genes map to the minimal TRPS1 gene region and only two of these genes, and , are located within the shortest region of deletion overlap of TRPS II patients. Abstract-2095072 A deletion of 8q24.11-q24.3 in a patient with multiple exostoses was found to overlap the distal end of the LGS deletion region, indicating that the gene is distal to the gene and supporting the hypothesis that Langer-Giedion syndrome is due to loss of functional copies of both the and the genes. Abstract-448189 Here we describe the construction and characterization of DNA libraries for the Langer-Giedion syndrome chromosome region LGCR Wilms tumor chromosome region 1 ( , 11p13), Prader-Willi syndrome/Angelman syndrome chromosome region (PWCR/ANCR, 15q11.2-12)

40. ScienceDaily -- Browse Topics: Health/Support_Groups/Conditions_and_Diseases/Fac langergiedion syndrome Association - International network of families and langer-giedion syndrome - The University of Houston Langer Giedion Syndrome http://www.sciencedaily.com/directory/Health/Support_Groups/Conditions_and_Disea

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Facial Differences : Langer-Giedion Syndrome Subtopics See Also: Health: Conditions and Diseases: Genetic Disorders Search Google: Langer-Giedion Syndrome News Books Links ... Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005) Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF).

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