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
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
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
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 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
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
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
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
Extractions: Trichorhinophalangeal syndrome type 2 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:
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
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 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
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.
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
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
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
Extractions: Information about national and local self-help organizations and support groups. 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. International network. Founded 1997.
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
Extractions: 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.
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
Extractions: 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
Extractions: Text Size A A A Front Page ... Facial Differences : Langer-Giedion Syndrome 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).
