Langer-Giedion Syndrome RhinoPhalangeal Syndrome Type II, also known as langer-giedion syndrome. I eventually hope it langer-giedion syndrome Contains detailed information and links to various resources http://wimp.nsm.uh.edu/lgs.html
Extractions: TRPSII/LGS Homepage Maps TRPS I TRPSII/LGS TRPS III/SKS ... Feedback This page is an attempt consolidate information and resources relevant to Tricho-Rhino-Phalangeal Syndrome Type II, also known as Langer-Giedion Syndrome. I eventually hope it will be a site that research scientists, clinicians, M.D.'s as well as affected individuals and families and friends of affected individuals will find useful. It will be upated and improved as often as possible. General Description.
Langer Giedion Syndrome Association The langergiedion syndrome Association supports families affected by the Trichorhinophalangeal Syndromes (I, II, III) and works with medical specialists to http://lgsa.net/
Index International network of families and professionals providing information and support to people affected by langergiedion syndrome. http://www.geocities.com/HotSprings/9308/
Langer Giedion Syndrome langergiedion syndrome. also Trichorhinophalangeal Syndrome, Type II or Type I) langer-giedion syndrome. langer-giedion syndrome Association. 89 Ingham Ave. Toronto, ON. M4K 2W8 Canada. 416-465-3029. e-mailkinross@istar.ca http://www.kumc.edu/gec/support/langer_g.html
Langer-Giedion Syndrome Information Diseases Database langergiedion syndrome Trichorhinophalangeal syndrome type 2, Disease Database Information Sponsors Contact Previous Page. langer-giedion syndrome Information. langer-giedion syndrome http://www.diseasesdatabase.com/ddb31949.htm
Extractions: Trichorhinophalangeal syndrome type 2 Langer-Giedion syndrome: Definition(s) via UMLS Code translations and terms via UMLS Langer-Giedion syndrome: specific sites Send Langer-Giedion syndrome to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these:
HONselect - Langer-Giedion Syndrome Accepted terms English langergiedion syndrome - Acrodysplasia V - Giedion-Langer Syndrome Langer Giedion Syndrome. Français LANGER-GIEDION, SYNDROME - ACRODYSPLASIE V http://www.hon.ch/HONselect/RareDiseases/C05.116.099.708.582.html
Trichorhinophalangeal Syndrome, Type II (Langer-Giedion Syndrome) Trichorhinophalangeal Syndrome, Type II (langergiedion syndrome) Helen T Shin tricho-rhinophalangeal syndrome with exostoses (or langer-giedion syndrome) four additional patients http://dermatology.cdlib.org/DOJvol7num2/case_reports/trichorhinopharyngeal/chan
Extractions: The Ronald O. Perelman Department of Dermatology, New York University Medical Center, New York, New York Trichorhinophalangeal syndrome (TRPS) is characterized by its unique facial features and skeletal abnormalities. A bulbous, pear-shaped nose, elongated philtrum, sparse hair, cone-shaped epiphyses and mild growth retardation are found in both type I (TRPSI) and type II (TRPSII). TRPSII can be distinguished from TRPSI when multiple exostoses or redundant skin are present. While TRPSI is inherited in an autosomal dominant fashion, most cases of TRPSII are sporadic although there are a few cases which are familial. The following is a case report of TRPSII with incomplete penetrance in the index case and exostoses and growth retardation in the patient¹s two siblings. Figure 1 Figure 2 Trichorhinophalangeal syndrome, type II. Note the sparseness of hair, low set ears with flattened helices, bulbous nose, elongated philtrum, thin upper lip and micrognathia. A 14 year old female presented to the pediatric dermatology clinic with dysmorphic features and skeletal anomalies. She was born at 35 weeks gestation with a birthweight of 2358 grams, with dysmorphic features noted at birth. Radiographic studies of the hands at one month of age showed lateral subluxation at the metacarpophalangeal joints of the fourth and fifth digits with markedly delayed bone age. She had a history of growth and developmental delay and several dislocated joints for which she had received multiple orthopedic interventions. In addition, she had a conductive hearing loss. Corrective surgeries included bilateral ptosis repair, jaw advancement, chin implant and club foot repair.Chromosomal analysis revealed a fragile site on chromosome 8. Her parents were nonconsanginous and her sister and half brother had multiple asymptomatic exostoses and short stature.
LGS Description Just what is langergiedion syndrome? By Dan Wells, PhD. Houston langer-giedion syndrome (Trichorhinophalangeal Syndrome, Type http://lgsa.net/lgs description.htm
Extractions: Houston Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome, Type II) is a rare genetic disorder caused by a small deletion on the long arm of chromosome 8 . It is what scientists call a contiguous gene syndrome , because more than one gene within the same location is affected, and each altered gene is responsible for some of the overall characteristics. Two genes are known to be affected in LGS. One is called Hereditary Multiple Exostoses Type 1 (EXT1). Deletion of this gene causes an independent disorder of the same name (EXT1), which is characterized by benign bony growths on various bones of the body. The second gene involved in LGS is Trichorhinophalangeal Syndrome, Type I (TRPSI). Loss of this gene causes a separate condition TRPSI characterized by cone-shaped extensions on the growing ends (epiphyses) of certain bones, particularly in the hands, and specific craniofacial features.
Langer-Giedion Syndrome This page is an attempt consolidate information and resources relevant to TrichoRhino-Phalangeal Syndrome Type II, also known as langer-giedion syndrome. http://wimp.nsm.uh.edu/LGS.html
Extractions: TRPSII/LGS Homepage Maps TRPS I TRPSII/LGS TRPS III/SKS ... Feedback This page is an attempt consolidate information and resources relevant to Tricho-Rhino-Phalangeal Syndrome Type II, also known as Langer-Giedion Syndrome. I eventually hope it will be a site that research scientists, clinicians, M.D.'s as well as affected individuals and families and friends of affected individuals will find useful. It will be upated and improved as often as possible. General Description.
LGS Support Langer Giedion Syndrome Association. The langergiedion syndrome Association is an international network of families and professionals http://wimp.nsm.uh.edu/LGS-FSG.html
Extractions: The Langer-Giedion Syndrome Association is an international network of families and professionals dedicated to providing information and support to people affected by LGS/TRPSII. Their mission is to further the understanding of LGS?TRPSII; 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/TRPSII 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
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
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. 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.
Support Groups - Langer-Giedion Syndrome home support groups conditions and diseases facial differences langergiedion syndrome langer-giedion syndrome. Information http://www.healthcyclopedia.com/support-groups/conditions-and-diseases/facial-di
Extractions: Web Directory: Langer-Giedion Syndrome The University of Houston Langer Giedion Syndrome home page. Information and resources for professionals and families. Langer-Giedion Syndrome Association International network of families and professionals providing information and support to people affected by Langer-Giedion Syndrome.
Entrez PubMed The orthopaedic manifestations of the langergiedion syndrome. Bauermeister S, Letts M. Division of Pediatric Orthopaedics, Children s http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9
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HealthlinkUSA Langer-Giedion Syndrome Links You can find langergiedion syndrome right now at Info.com. Click here for page 1 of langer-giedion syndrome information from the HealthlinkUSA directory. http://www.healthlinkusa.com/179ent.htm
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
Langer-Giedion Syndrome langergiedion syndrome Association. langer-giedion syndrome langer-giedion syndrome Association International network. WRITE langer-giedion syndrome Assn. http://my.webmd.com/hw/health_guide_atoz/shc29lan.asp
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Trichorhinophalangeal Syndrome Type II Trichorhinophalangeal Syndrome Type II (TRPS2), also known as langergiedion syndrome, is an extremely rare inherited multisystem disorder. http://my.webmd.com/hw/health_guide_atoz/nord1074.asp
Extractions: Dictionaries: General Computing Medical Legal Encyclopedia Word: Word Starts with Ends with Definition 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 A chromosome is, minimally, a very long, continuous piece of DNA, which contains many genes, regulatory elements and other intervening nucleotide sequences. In the chromosomes of eukaryotes, the uncondensed DNA exists in a quasi-ordered structure inside the nucleus, where it wraps around histones (structural proteins, Fig. 1), and where this composite material is called chromatin. During mitosis Click the link for more information. material. In Langer-Giedion syndrome a small piece of the eighth chromosomes long arm is missing, comprising a number of genes The word " gene " is shared by many disciplines, including whole organism-based or classical genetics, molecular genetics, evolutionary biology and population genetics. It has multiple uses within each of these contexts, but in the primary sense, genes are material things that parents pass to offspring during reproduction; these things encode information essential for the construction and regulation of polypeptides, proteins and other molecules essential for the growth and functioning of the organism. This sense, which is common to all of the above disciplines, is also the original historical meaning of gene.
