1. Langer-Giedion Syndrome The University of Houston 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. http://wimp.nsm.uh.edu/lgs.html

The University of Houston Langer Giedion Syndrome Home Page Workshops Maps TRPS I LGS ... Home 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. Links to the Online Mendelian Inheritance of Man (OMIM) Langer-Giedion Syndrome Contains detailed information and links to various resources. Go to OMIM home page. Allows you to search for information on any inherited disease. Clinical Synopsis. Contains brief synopsis of clinical characteristics of LGS/TRPS II. Reference Links View LGS Bibliographic Citations. Contains list of Journal citations relevant to LGS. Most citations have abstract links. Also see the EXT and TRPSI citation lists. Perform your own reference search. Allows you to do your own reference search using key words. General Information for the Non-Scientist General Description. Contains a layman's description of LGS. Langer Giedion Syndrome Association Contains information on LGSA, a support and advocacy group for Langer Giedion Syndrome.

2. Index International network of families and professionals providing information and support to people affected Category Health Support Groups langergiedion syndrome......This page hosted by. Get your own Free Home Page. http://www.geocities.com/HotSprings/9308/

This page hosted by Get your own Free Home Page We have moved to... http://lgsa.net Please visit us in our new home!

3. Langer Giedion Syndrome langergiedion syndrome (also Trichorhinophalangeal Syndrome, Type II or Type I) langer-giedion syndrome Association 89 Ingham Ave. M4K 2W8 Canada http://www.kumc.edu/gec/support/langer_g.html

Langer-Giedion Syndrome (also Trichorhinophalangeal Syndrome, Type II or Type I) Langer-Giedion Syndrome Langer-Giedion Syndrome Association 89 Ingham Ave. Toronto, ON M4K 2W8 Canada e-mail: kinross@istar.ca Langer-Giedion Syndrome (also known as Trichorhinophalangeal Syndrome, Type II) is a multi-system disorder involving the deletion of at least two genes on the long arm of chromosome 8 (8q24.11). In 1997, this international organization founded for people affected by LGS and Trichorhinophalangeal Syndrome, Type I (a milder condition). Includes over 30 families from around the world affected by LGS, and more than 10 affected by TRPSI. Langer-Gideon Syndrome Association - TRPS (all types) c/o Raquel Rozenberg 11695 Boulton Ave. San Diego, CA 92128 E-mail: lgsa@geocities.com Langer Giedion Syndrome , Wells Lab Also See: National organizations information on genetic conditions or birth defects To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC

4. Other Craniofacial Disorders Goodman NORD. JacksonWeiss NORD OMIM. Langer Giedionlanger-giedion syndrome Association NORD. http://www.geocities.com/HotSprings/1018/cranio.html

Craniofacial Disorders These is just a short list of the other craniofacial disorders that we have come across in our searches. We have provided links to descriptions of these disorders from a few different databases. National Organization of Rare Disorders entries appear as NORD. National Center for Biotechnical Information - Online Mendelian Inheritance in Man database entries appear as OMIM. Pediatric Database entries appear as Ped Database . National Institute of Neurological Disorders and Stroke entries appear as NINDS. We have also provided links to support groups and personal home pages for the specific disorders. If you know of any websites that we have failed to include, please let us know. Antley-Bixler NORD OMIM Apert Teeter's HomePage NORD OMIM Ped Database Arhinia Kristi's Arhinia Page Baller-Gerold NORD OMIM Carpenter NORD Craniosynostosis CAPPS - Craniosynostosis and Parent Support Asher's Craniosynostosis Page NORD OMIM ... NINDS Crouzon Crouzon Support Network NORD OMIM Ped Database Goodman NORD Jackson-Weiss NORD OMIM Langer Giedion Langer-Giedion Syndrome Association NORD Pfeiffer Syndrome MacKenzie's Page Haley's Page NORD OMIM ... Ped Database Pierre-Robin Syndrome/Sequence Garland Neal's PRS Story Pierre Robin Network NORD Ped Database Russell-Silver The Magic Foundation NORD OMIM Saethre-Chotzen NORD Sagittal Synostosis Sagittal Synostosis Cranio Support Group Sagittal Synostosis Homepage Shprintzen-Goldberg NORD Search their database, articles may be available.

5. LGS Support Langer Giedion Syndrome Association. The langergiedion syndrome Associationis an international network of families and professionals http://wimp.nsm.uh.edu/LGS-FSG.html

Langer Giedion Syndrome Association The Langer-Giedion Syndrome Association is an international network of families and professionals dedicated to providing information and support to people affected by LGS. Their mission is to further the understanding of LGS; to provide support through information on diagnosis, treatments and life issues; to connect families; and to advocate for continued research. Activities include a tri-annual newsletter, LGS Links; family matching; outreach to increase our database of affected individuals; a web page; and networking with specialists to promote research. Annual membership is $20US. For more information, see the LGSA Home Page. or contact: Raquel Rozenberg 11695 Boulton Ave. San Diego, CA 92128, USA lgsa@geocities.com Louise Kinross 89 Ingham Ave. Toronto, Ont. M4K 2W8, Canada kinross@istar.ca Back to: LGS Home Page This page last updated 6/98.

6. Home The langergiedion syndrome Association supports families affected by the TrichorhinophalangealSyndromes (I, II, III) and works with medical specialists to http://lgsa.net/

Welcome! You are visitor number Our Mission The Langer-Giedion Syndrome Association supports families affected by the Contact Information Email: rrozenberg@cox.net Prev Skip Prev List ... Next This The Original Ring of Special Needs Children site belongs to Raquel Rozenberg Send mail to rrozenberg@cox.net with questions or comments about this web site. Last modified: 09/17/02

7. Abstracts Journal Article Abstracts on langergiedion syndrome. The orthopaedic manifestationsof the langer-giedion syndrome. Bauermeister S. Letts M. http://lgsa.net/news.htm

Journal Article Abstracts on Langer-Giedion Syndrome The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature. Langer LO Jr. Krassikoff N. Laxova R. Scheer-Williams M. Lutter LD. Gorlin RJ. Jennings CG. Day DW. American Journal of Medical Genetics. 19(1):81-112, 1984 Sep. We report on four patients with tricho-rhino-phalangeal syndrome with exostoses (TRPSE) who were not mentally retarded and review 32 previously published cases. These data enable more complete delineation of the phenotype and document the variability of the clinical and radiographic manifestations. Information on the genetics and the association with del(8q) is discussed, as are management and avenues for further investigation. The apparent variability of intelligence in TRPSE patients together with the high incidence of other problems, including significant delay in speech development and hearing loss, make systematic multidisciplinary evaluation and long-term treatment necessary to achieve the best outcome. A case of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) associated with epilepsy Takemura T. Yoshioka K. Okada M.

8. HONselect - Langer-Giedion Syndrome English langergiedion syndrome, - Acrodysplasia V - Giedion-Langer Syndrome -Trichorhinophalangeal Syndrome Type II - Trichorhinophalangeal Syndrome with http://www.hon.ch/HONselect/RareDiseases/C05.116.099.708.582.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Langer-Giedion Syndrome - Acrodysplasia V - Giedion-Langer Syndrome - Trichorhinophalangeal Syndrome Type II - Trichorhinophalangeal Syndrome with Exostoses - Giedion Langer Syndrome - Langer Giedion Syndrome Français: LANGER-GIEDION, SYNDROME - ACRODYSPLASIE V - DYSPLASIE TRICHO-PHALANGIENNE TYPE II - SYNDROME LANGIER-GIEDION Deutsch: Langer-Giedion-Syndrom - Akrodysplasie V - Giedion-Langer-Syndrom - Tricho-rhino-phalangeale Dysplasie Typ II Español: SINDROME DE LANGER-GIEDION - ACRODISPLASIA V - SINDROME DE GIEDION-LANGER - SINDROME TRICORRINOFLANGIANO TIPO II Português: SINDROME DE LANGER-GIEDION - ACRODISPLASIA V - SINDROME DE GIEDION-LANGER - SINDROME TRICORRINOFALANGEANA TIPO II HONselect ressources Definition: Yes Articles: Yes Images: Yes News: No Conferences: No Clinical trials: No Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C05.116.099.708.582.html Last modified: Thu Jul 25 2002

9. 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

"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"

10. Langer-Giedion Syndrome (www.whonamedit.com) langergiedion syndrome Also BD Hall, LO Langer Jr, A. Giedion, DW Smith,MM Cohen, RK Beals, M. Brandner langer-giedion syndrome. Birth http://www.whonamedit.com/synd.cfm/1865.html

Home List categories Eponyms A-Z Biographies by country ... Contact Langer-Giedion syndrome Also known as: Alè-Calò syndrome Klingmüller’s syndrome Synonyms: Acrodysplasia V syndrome, acrodysplasia dysostoses syndrome, trichorhinophalangeal dysplasia syndrome type II, multiple exostoses-mental retardation (MEMR) syndrome, trichorhino-auriculophalangeal multiple extoses (TRAMPE) dysplasia. Associated persons: G. Alè S. Calò Andreas Giedion Viktor Felix Karl Klingmüller ... Leonard O. Langer Jr. Description: Syndrome characterized by a combination of mental retardation and a long list of physical abnormalities, including multiple extoses, peculiar facies, and loose redundant skin. Facial features include a bulbous nose with thickened septum and alae, wide prominent philtrum, thin upper lips, and small mandible. During first five years of life recurrent respiratory infections. One of the contiguous gene syndromes. Present from birth. Both sexes affected. Bibliography: G. Alè, S. Calò: Su di un caso di disostosi periferica associata con esostosi osteogeniche multiple ed ipossomia disuniforme disarmonica. Annali di radiologia diagnostica, 1961, 34: 376-385.

11. Andreas Giedion (www.whonamedit.com) Associated eponyms langergiedion syndrome Syndrome characterized by a combinationof mental retardation and a long list of physical abnormalities, including http://www.whonamedit.com/doctor.cfm/1313.html

Home List categories Eponyms A-Z Biographies by country ... Contact Andreas Giedion Swiss radiologist, born May 2, 1925, Zurich. Associated eponyms: Langer-Giedion syndrome Syndrome characterized by a combination of mental retardation and a long list of physical abnormalities, including multiple extoses, peculiar facies, and loose redundant skin. Schinzel-Giedion syndrome A distinct dysmorphy syndrome of congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation. Biography: Andreas Giedion graduated in medicine from the University of Zurich in 1950. He trained in paediatrics in Boston an Zurich, and in 1962 was appointed chief of the department of radiology at the University of Zurich Children's Hospital in 1962. Bibliography: A. Giedion: Das tricho-rhino-phalangeale Syndrom. Helvetica paediatrica acta, Basel, 1966, 21: 475. A. Giedion, M. Brandner, J. Lecannellier, U. Muhar, A. Prader, J. Sulzer, E. Zweymüller: Oto-spondylo-megaepiphyseal dysplasia (OSMED). Helvetica paediatrica acta, Basel, 1982, 37: 361-380. Weissenbacher-Zweymuller syndrome I Ole Daniel Enersen

12. HealthlinkUSA Langer-Giedion Syndrome Links Try it, you'll love it! AhHa. Click here for page 1 of langer-giedion syndromeinformation from the HealthlinkUSA directory. Save on Drugs Here. http://www.healthlinkusa.com/179ent.htm

13. Langer-Giedion Syndrome; Treatment, Prevention, Cure langergiedion syndrome Search here for information which may include treatment,diagnosis, prevention, support groups, email lists, messageboards, personal http://www.healthlinkusa.com/content/179.html

14. The Contact A Family Directory - LANGER-GIEDION SYNDROME printer friendly, langergiedion syndrome, langer-giedion syndrome TrichorhinophalangealSyndrome Type II. There is no support group for langer-giedion syndrome. http://www.cafamily.org.uk/Direct/l14.html

printer friendly LANGER-GIEDION SYNDROME home more about us in your area conditions information ... how you can help search this site 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.

15. Langer-Giedion Syndrome langergiedion syndrome. Langer-Giedion additional abnormalities. from thelanger-giedion syndrome Association. Chromosome region 8q24.11-q24.13. http://www.slh.wisc.edu/cytogenetics/CaseOfTheMonth/LangerGiedion.html

Langer-Giedion Syndrome Langer-Giedion Syndrome is an extremely rare genetic, multisystem disorder that belongs to the group of diseases known as Ectodermal Dysplasias. Langer-Giedion Syndrome is characterized by fine, thin hair; unusual facial features; progressive growth retardation resulting in short stature; abnormally short fingers and toes (brachydactyly); "cone-shaped" formation of the "growing ends" of certain bones; development of multiple bony growths (exostoses) projecting outward from the surfaces of various bones of the body; and/or additional abnormalities. [from the Langer-Giedion Syndrome Association] Chromosome region Also known as: (tricho-rhino-phalangeal syndrome (TRPS) type II) Links to Langer-Giedion sites: Online Mendilian Inheritance in Man database information Langer-Giedion Syndrome Association National Foundation for Ectodermal Dysplasias Langer-Giedion sites listed by Yahoo See also: Full Karyotype Partial Karyotype with schematic diagram Back to Case of the Month Page

16. Case Of The Month April 98 Karyotype deleted between bands 24.11 and 24.21. A deletion in this region ofchromosome 8 is linked with langergiedion syndrome. see also http://www.slh.wisc.edu/cytogenetics/CaseOfTheMonth/Karyotypes/CoMApr98karyo.htm

Cytogenetic finding: 46,XX,del(8)(q24.11q24.21) The above karyotype describes a female (XX sex chromosomes) with a chromosome number of 46, but has a deletion in the long arm (q-arm) of chromosome 8, deleted between bands 24.11 and 24.21. A deletion in this region of chromosome 8 is linked with Langer-Giedion Syndrome. see also: Information and support for Langer-Giedion syndrome Partial karyotype with schematic diagram of the deletion Karyotype showing a deletion of the long arm of chromosome 8 Back to Case of the Month page

17. Langer=-Giedion Syndrome langergiedion syndrome. (Trichorhinophalangeal Syndrome, Type II). ThisSyndrome can also go under the name of langer-giedion syndrome . http://www.dickibus.co.uk/lgs.htm

Farmer: "I let walkers cross the field for free, But the bull charges!" Donations VERY welcome Click below Good judgment comes from experience. Unfortunately, the experience usually comes from bad judgment. The greatest miracle in the Bible is when Joshua told his son to 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.

18. Health Library - Langer-Giedion Syndrome langergiedion syndrome. Self Help Clearinghouse. langer-giedion syndromeAssociation. International network. Founded http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29l

19. Health Library Landmine Survivors NetworkLandmine Survivors. langer-giedion syndrome. Langer-GiedionSyndrome Association-langer-giedion syndrome. Laryngectomy. http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/_SearchResults.asp?le

20. Health Library - Langer-Giedion Syndrome Saint Luke's Health System eLibrary. langergiedion syndrome. Self Help Clearinghouse.langer-giedion syndrome Association. International network. http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29

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