LANGER-GIEDION (TRICHO-RHINO-PHALANGEAL) SYNDROME Features Listed For langergiedion (TRICHO-RHINO-PHALANGEAL) syndrome.McKusick 150230. Abdominal muscle hypoplasia/aplasia; Cartilaginous http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?971
Langer Giedion Syndrome Back Home Next. Langer Giedion syndrome. The Wells Lab Langer Giedion syndromeHome Page. Copyright of Ability All Rights Reserved1990 Webmaster . http://www.ability.org.uk/Langer_Giedion_Syndrome.html
Extractions: 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
Birth Disorder Information Directory - L LandouzyDejerine Dystrophy See Facioscapulohumeral Muscular Dystrophy.Langer Giedion syndrome (Trichorhinophalangeal syndrome, Type II) http://www.bdid.com/defectl.htm
Langer Giedion Syndrome click For Medical Professionals only. Langer giedion syndrome,,Print this article, (Leonard Langer, 20th century, American http://www.amershamhealth.com/medcyclopaedia/Volume VII/LANGER GIEDION SYNDROME
Extractions: *For Medical Professionals only, registration required Langer giedion syndrome, (Leonard Langer, 20th century, American paediatric radiologist; Andreas Giedion, 20th century, Swiss paediatric radiologist). Clinically the patients appear similar to trichorhinophalangeal dysplasia Type I but have in addition short stature and mental retardation. Radiographically, in addition to the features seen in Type I, there are multiple cartilaginous exostoses.
Canadian Directory Of Genetic Support Groups Langer Giedion syndrome Association Louise Kinross LGSA Cofounder 89 Ingham AvenueToronto, Ontario, Canada, M4K 2W8 Tel (416) 465-3029 Fax (416) 465-4963 http://www.lhsc.on.ca/programs/medgenet/langergi.htm
Canadian Directory Of Genetic Support Groups Lactic Acidosis Support Group ( LacticAcidosis) Langer Giedion syndrome Association(Langer Giedion syndrome) Late Onset Tay-Sachs Foundation (Late Onstet Tay http://www.lhsc.on.ca/programs/medgenet/l_sup.htm
Chromosome Help-Station Discussion TOC (Framed) Jan 2003 Re Growth Hormon and Langer Giedion Syndrom 15 Jan 2003 We are an internationalparental support group for families and friends with WAGR syndrome. http://www.chromosomehelpstation.com/disc_tocf.htm
Extractions: Re: Deletion Chromosome 10q (orig. posted 2002) Joseph 15 Jan 2003 Chromosome 4q (orig. posted 202) 15 Jan 2003 Growth Hormon and Langer Giedion Syndrom Annet (orig. posted 2002) 15 Jan 2003 We are an international parental support group for families and friends with WAGR Syndrome. Cathy273@msn.com (orig. posted 2002) 15 Jan 2003 Klippel Trenauney Syndroom Mieke van Rijn-Remans 15 Jan 2003 Wagr-syndrome 15 Jan 2003 Re: 11P + Wagr - syndrome (jan 18, 2003)
Katalog - Wirtualna Polska Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce. http://katalog.wp.pl/DMOZ/Health/Consumer_Support_Groups/Facial_Differences/Lang
Langer-Giedionin Oireyhtymä Kehitysvammahuollon tietopankki. Harva tukka, sipulinmuotoinen nenä,luustohäiriöt, kehitysvammaisuus, pienipäisyys ja liikaihoisuus. http://www.saunalahti.fi/kup/syndroma/langer_g.htm
Extractions: Langer-Giedionin oireyhtymä on tartuntageenisairaus. Sen aiheuttaa sekä hius-nenä-sormijäsen-geenin (TRPS1) että luukasvama-geenin (EXT1) kopioitumishäiriö. Häiriötila muistuttaa triko-rhino-falangeaalisen oireyhtymän 1. tyyppiä, jolle on ominaista sipulimainen nenä, harva tukka ja kartiomaiset luunpäät. Sen lisäksi oireisiin kuuluvat kehitysvammaisuus pienipäisyys , luuliikamat ja ja liikaihoisuus. Oireyhtymään vähemmän kiinteästi kuuluvia piirteitä ovat ylitaipuisat nivelet, toistuvat hengitysteiden infektiot ja puheen kehityksen jälkeenjääneisyys. Vatsa saattaa näyttää liiallisen ihon takia osin samalla tavalla ryppyiseltä kuin Prune Bellyn oireyhtymässä ja kulmakarvat voivat olla tuuheat. Myös kohdun alueen (kohtuontelon verenkertymä, vesikohtuemätin) ja virtsateiden (virtsan takaisinvirtaus) vikojen riski on kasvanut. Vaikka oireyhtymää pidetään vallitsevasti periytyvänä , kaikki tähän asti tunnetut tapaukset ovat olleet satunnaisia. Vammautuneiden enemmistö on miehiä.
Page 2 JacksonWeiss National Organization of Rare Disorders OMIM. Langer Giedion Langer-GiedionSyndrome Association National Organization of Rare Disorders. http://members.tripod.com/~Craniofacial/page2.htm
Extractions: The Craniofacial Disorders indexed on this page are: Jackson-Weiss, Langer-Geidon, Parry-Rombergs, Pfeiffer, Pierre-Robin, Russell-Silver, Saethre-Chotzen, Sagittal Synostosis, Shprintzen-Goldberg, Stickler, and Treacher-Collins. Page 1 includes Antley-Bixler, Apert, Arhinia, Baller-Gerold, Carpenter, Craniosynostosis, Crouzon and Goodman. Jackson-Weiss
Abstract Original Investigation. Genes and chromosomal breakpoints in the LangerGiedionsyndrome region on human chromosome 8. Hermann-Josef http://link.springer-ny.com/link/service/journals/00439/contents/99/00176/s00439
Extractions: , Olaf Schmidt , Judith Nardmann , Diane von Holtum , Peter Meinecke , Maximillian Muenke and Bernhard Horsthemke Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Pennsylvania, USA Present address : Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md., USA Abstract. The tricho-rhino-phalangeal syndrome type II (TRPS II, or Langer-Giedion syndrome) is an example of contiguous gene syndromes, as it comprises the clinical features of two autosomal dominant diseases, TRPS I and a form of multiple cartilaginous exostoses caused by mutations in the gene. We have constructed a contig of cosmid, -phage, PAC, and YAC clones, which covers the entire TRPS I critical region. Using these clones we identified a novel submicroscopic deletion in a TRPS I patient and refined the proximal border of the minimal gene region by precisely mapping the inversion breakpoint of another patient. As a first step towards a complete inventory of genes in the Langer-Giedion syndrome chromosome region (LGCR) with the ultimate aim to identify the
Mini-MIM For OMIM ENTRY 133700 Multiple exostoses also occur in metachondromatosis (156250) and the LangerGiedionsyndrome (LGS; 150230), and exostosis-like lesions occur with http://caroll.vjf.cnrs.fr/cancergene/133700.mini.html
Extractions: Mini-MIM is updated only periodically. Creation and edit dates will soon appear on all mini-MIMs; however, to ensure that you are viewing the most up-to-date information, please check the full OMIM entry. Multiple exostoses, type I (EXT1) is characterized by cartilaginous excrescences, near the ends of the diaphyses of the bones of the extremities, that undergo ossification. The upper end of the femur and the pelvis are the main locations of exostoses, and they are also found in the shoulder girdle and ribs, but not the skull. Deformity of the legs, forearms (resembling Madelung deformity), and hands (e.g., short metacarpal) is frequent. The patients are often of reduced stature. The natural history was reviewed by Wicklund et al. (1995) and Peterson (1989) discussed the orthopedic management. Penetrance is 100%. Males have more severe and more frequent complications. Malignancies occur in around 0.5 to 2% of cases, rarely before the tenth or after the fiftieth year. Multiple exostoses also occur in metachondromatosis ( ) and the Langer-Giedion syndrome (LGS;
