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1. 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
The University of Houston
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.
Links to the Online Mendelian Inheritance of Man (OMIM)
Reference Links
General Information for the Non-Scientist

2. 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/
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The Langer-Giedion Syndrome Association supports families affected by the
Prev Skip Prev List Join ... Next This The Original Ring of Special Needs Children site belongs to Raquel Rozenberg

3. Index
International network of families and professionals providing information and support to people affected by langergiedion syndrome.
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!

4. 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 (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
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5. 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
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2 synonyms or equivalents were found. Langer-Giedion syndrome
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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:
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6. 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
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 Yes 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: Wed Apr 28 2004

7. 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
DOJ
Contents

English
Trichorhinophalangeal Syndrome, Type II (Langer-Giedion Syndrome)
Helen T Shin and Mary Wu Chang
Dermatology Online Journal 7(2): 8
The Ronald O. Perelman Department of Dermatology, New York University Medical Center, New York, New York
Abstract
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.
Case Report
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.

8. LGS Description
Just what is langergiedion syndrome? By Dan Wells, PhD. Houston langer-giedion syndrome (Trichorhinophalangeal Syndrome, Type
http://lgsa.net/lgs description.htm
Just what is Langer-Giedion Syndrome?
By Dan Wells, PhD.

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.
While some of the literature still places these genes in the region 8q24.11-q24.13, my best estimate is that both are located in band 8q24.11.
LGS is caused by the functional loss of these two genes, and people with LGS generally have clinical features of both conditions. So a simple way of thinking of LGS is as a combined syndrome in which people have both EXT1 and TRPSI.

9. 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
The University of Houston
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.
Links to the Online Mendelian Inheritance of Man (OMIM)
Reference Links
General Information for the Non-Scientist

10. 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
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/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
11695 Boulton Ave.
San Diego, CA
92128, USA
lgsa@geocities.com Louise Kinross
89 Ingham Ave.
Toronto, Ont.
M4K 2W8, Canada
kinross@istar.ca Also see the TRPS support group web page serving TRPSI, II, and III families Back to:
TRPS/LGS Home Page
This page last updated 9/2003.

11. 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

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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:

12. Support Groups - Langer-Giedion Syndrome
home support groups conditions and diseases facial differences langergiedion syndrome langer-giedion syndrome. Information
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Health News: Search millions of published articles for news on Support Groups - Langer-Giedion Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. 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. Notes: Healthcyclopedia presents health information in the form of websites and articles that encompass conventional medicine and alternative treatments Under no circumstances can it recommend or endorse a specific drug or therapy or treatment.

13. OMIM - LANGER-GIEDION SYNDROME; LGS

http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150230

14. 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

15. Langer Giedion Syndrome Facial Differences Conditions And Diseases Support Group
Support Groups. Most comprehensive resource on Support Groups Conditions And Diseases Facial Differences Langer Giedion Syndrome. langergiedion syndrome .
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International network of families and professionals providing information and support to people affected by Langer-Giedion Syndrome.

16. 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

17. Langer-Giedion Syndrome; Treatment, Prevention, Cure
langergiedion syndrome Search here for information which may include treatment, diagnosis, prevention, support groups, email lists, messageboards, personal
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18. 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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You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Langer-Giedion Syndrome Association Langer-Giedion Syndrome 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 Intham Ave. Toronto, Ontario Canada M4K 2W8 CALL: 416-465-3029 Louise Kinross E-MAIL: lkinross@rogers.com WEBSITE: http://www.lgsa.net VERIFIED: 2/24/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information.

19. 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
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You are in Medical Library Choose a Topic 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
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20. Langer-Giedion Syndrome - Encyclopedia Article About Langer-Giedion Syndrome. Fr
langergiedion syndrome. langer-giedion syndrome is named after the two doctors who undertook the main research into the condition in the 1960s.
http://encyclopedia.thefreedictionary.com/Langer-Giedion syndrome
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Langer-Giedion syndrome
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 chromosome’s 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.

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