41. Treacher Collins Syndrome treacher collins syndrome is a rare inherited disorder characterized by distinctive abnormalities of http://my.webmd.com/hw/health_guide_atoz/nord647.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Treacher Collins Syndrome Important It is possible that the main title of the report Treacher Collins Syndrome 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 Treacher Collins-Franceschetti Syndrome 1 Mandibulofacial Dysostosis Franceschetti-Zwalen-Klein Syndrome TCS Disorder Subdivisions None General Discussion Treacher Collins Syndrome is a rare inherited disorder characterized by distinctive abnormalities of the head and facial (craniofacial) area due to underdevelopment (hypoplasia) of certain portions of the skull (e.g., supraorbital rims and zygomatic arches). Although the symptoms and physical characteristics associated with Treacher Collins Syndrome can vary greatly in severity from patient to patient, craniofacial abnormalities tend to involve the cheekbones, jaws, mouth, ears, and/or eyes. Resources Treacher Collins Foundation P.O. Box 683

42. Treacher Collins Syndrome - Wikipedia, The Free Encyclopedia treacher collins syndrome is a rare genetic disorder characterized by craniofacial It is also known as Treacher CollinsFranceschetti Syndrome and http://en.wikipedia.org/wiki/Treacher_Collins_Syndrome

You did it! Over US$240,000 was donated in the 21-day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Treacher Collins syndrome From Wikipedia, the free encyclopedia. (Redirected from Treacher Collins Syndrome Treacher Collins syndrome is a rare genetic disorder characterized by craniofacial deformities. It is also known as Treacher Collins-Franceschetti syndrome and mandibulofacial dysostosis. Treacher Collins syndrome is found in 1 in every 10,000 births. The typical physical features include downward slanting eyes, a small lower jaw, and malformed or absent ears. Its most common name is after Dr Edward Treacher Collins ), English surgeon and ophthalmologist The disease is caused by mutations in the ' gene chromosome 5q32-q33.1). The protein coded by this gene has been hypothesised to assist in protein sorting during particular stages in embryonic development, particularly that of the structures of the head and face. edit Synonyms Eponyms: Berry's syndrome (after Dr. George Andreas Berry)

43. Treacher Collins Syndrome - HUM-MOLGEN Author, Topic treacher collins syndrome. Administrator Administrator, posted 1210-2002 0245 PM Click After searching the Treacher-Collins syndrome http://hum-molgen.org/bb/Forum2/HTML/000120.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) Treacher Collins Syndrome profile register preferences faq ... next oldest topic Author Topic: Treacher Collins Syndrome Administrator Administrator posted 12-10-2002 02:45 PM Dear Sirs We have a couple who have a son with Treachar Collins Syndrome, and they want have more children. Therefore, I would like to know if you can help me to find the Laboratory which performs the molecular diagnosis of this condition. Thank you in advance Yours sincerely MT Lourenço MD Seerviço de Genética Médica Hospital Egas Moniz 1300 Lisboa-PORTUGAL e-mail addres:terjea@mail.telepac.pt or genclin@hegasmoniz.min-saude.pt IP: 160.45.191.21 Member posted 12-17-2002 04:50 PM After searching the Treacher-Collins syndrome in the Rare diseases data base (www.orpha.net), I came up with a lab. in Rome that does the diagnose you formerly refered to: Person(s) responsible: Sig Dr Mario BENGALA Sig Pr Giuseppe NOVELLI Name of the service: Laboratorio di Genetica Medica - Dipartimento di Biopatologia e Diagnostica per Address : Università degli Studi "Tor Vergata" Via Montpellier 1 00133 ROMA ITALIA Phone : Fax : I hope to have been helpful in this matter.

44. Pseudo-Treacher Collins Syndrome - HUM-MOLGEN They had been diagnosed as having treacher collins syndrome, but that clearly is not the correct diagnosis. They are very motivated to have someone try to http://hum-molgen.org/bb/Forum2/HTML/000017.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) Pseudo-Treacher Collins syndrome profile register preferences faq ... next oldest topic Author Topic: Pseudo-Treacher Collins syndrome Administrator Administrator posted 01-27-2000 10:23 AM We have recently seen a family in which the combination of apparent branchial arch anomalies and minor digital defects is inherited as an autosomal dominant trait. They had been diagnosed as having Treacher Collins syndrome, but that clearly is not the correct diagnosis. They are very motivated to have someone try to identify the gene. There are at least 6 affected individuals in three generations. Please contact: Helga Toriello, Ph.D. Genetics Services 21 Michigan St. Suite 465 Grand Rapids, MI 49503 phone: 616-391-2701 fax: 616-391-3114 Email: helga.toriello@spectrum-health.org IP: 160.45.191.21 All times are ET (US) next newest topic next oldest topic Administrative Options: Close Topic Archive/Move Delete Topic Hop to: Select a Forum or Archive List of Forums: Biotechnical requests and sources DIAGnostics - Clinical Research (professional requests) Ethical, legal and social implications

45. Healthfinder® - Treacher Collins Syndrome Carefully selected government and nonprofit health information on treacher collins syndrome. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=871

46. Healthfinder® — Treacher Collins Foundation - TCF founded in 1988 to serve the needs of families/individuals affected by treacher collins syndrome, treacher collins syndrome An Overview http://www.healthfinder.gov/orgs/HR2394.htm

Help Advanced Search News Library ... Organizations Treacher Collins Foundation - TCF Organization URL(s) www.treachercollinsfnd.org Other Contact Information P.O. Box 683 Norwich, VT 05055-0683 802-649-3050 (Voice) Description The Treacher Collins Foundation is a non-profit organization founded in 1988 to serve the needs of families/individuals affected by Treacher Collins Syndrome, a rare facial deformity involving underdevelopment of the bone and soft tissue of the face and head. The central mission of TCF is to link together people and families affected by Treacher Collins syndrome, for mutual support. Information and referrals are offered for the areas of psychosocial implications, genetics, feeding and breathing issues, hearing aids, speech and language development, IEP development, reconstructive surgeries and insurance coverage. There are no charges for services. Online Resources Treacher Collins Syndrome: An Overview http://www.treachercollinsfnd.org/e_reich.htm Print Resources Related Topics Treacher Collins Syndrome Review Date Wed Oct 13, 2004

47. The DRM WebWatcher Treacher Collins treacher collins syndrome. Check out our sponsors! bullet treacher collins syndrome An overview and list of helpful organizations from the National http://www.disabilityresources.org/TREACHER.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher Treacher Collins Syndrome Updated 6/2004 A B C D ... About/Hint/Link Treacher Collins (mandibulofacial dysostosis) is a condition that causes abnormalities of the craniofacial area. Although we have not identified any comprehensive resources online, the following are some useful fact sheets and home pages. You may also wish to visit the related topics for more information. Treacher Collins Family Support Group This British support group provides basic informations about Treacher Collins, genetic information, bone conduction and bone anchored hearing aids, and related sites. Treacher Collins Foundation The website of "an organization of families, individuals, and professionals who are interested in developing and sharing knowledge and experience about Treacher Collins syndrome and related conditions." Includes information about the syndrome, a newsletter, bibliography, and other resources. Treacher Collins Network This personal home page by the parents of a child with Treacher Collins offers links to informational and personal home pages, and a bulletin board.

48. Treacher Collins Syndrome Consumer Support Groups / Facial Differences / treacher collins syndrome. The Treacher Collins Network A condition that affects the craniofacial area http://www.reference.com/Dir/Health/Consumer_Support_Groups/Facial_Differences/T

Dictionary Thesaurus Encyclopedia Web Home Premium: Sign up Login YOUR AD HERE Dictionary ... Encyclopedia - Web Directory Web Directory Top Health Consumer Support Groups Facial Differences / Treacher Collins Syndrome The Treacher Collins Network A condition that affects the craniofacial area with slight to very severe anomalies. The most widely affected area is that of the cheek bones and jawbones, which are underdeveloped. This sometimes leads to breathing and eating complications. Other anomalies include microtia (absence or underdevelopment of the outer ear), hearing loss, abnormal eyelids, downward slanting of the eyes. Microtia - Congenital Ear Institute The Microtia - Congenital Ear Institute is run by J. Arturo Bonilla, M.D. The Institute sees and operates on hundreds of children born with microtia and atresia. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Lexico Publishing Group, LLC ... Contact Us

49. WebMD With AOL Health - Treacher Collins Syndrome National network. Founded 1988 Support for families, individuals and professionals re Treacher Collins http://aolsvc.health.webmd.aol.com/hw/health_guide_atoz/shc29tre.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; Friday, September 09, 2005 WebMD Main Condition Centers Medical Library Health Tools ... Site Map You are in Medical Library All Content Sources Health Guide A-Z Illustrated Guides Medical News Archive Member Stories Symptom Checker Health Topics Symptoms Medical Tests Medications ... Treacher Collins Foundation Treacher Collins Syndrome Treacher Collins Foundation National network. Founded 1988 Support for families, individuals and professionals re: Treacher Collins syndrome and related disorders. Provides networking, educational materials, newsletter, information and referrals, phone support, resource list, bibliography and central library, videos and booklets. Online resources and newsletter. WRITE: Treacher Collins Fdn. P.O. Box 683 Norwich, VT 05055 E-MAIL: hopecharkins@hotmail.com WEBSITE: http://treachercollinsfnd.org/ VERIFIED: 5/14/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, 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. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

50. Support Groups Treacher Collins Syndrome Support Groups treacher collins syndrome The Treacher Collins Network A condition that affects the craniofacial area with slight to very severe http://www.ability.org.uk/support_groups_treacher_collins.html

"see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z Support Groups Treacher Collins Syndrome Microtia - Congenital Ear Institute - The Microtia - Congenital Ear Institute is run by J. Arturo Bonilla, M.D. The Institute sees and operates on hundreds of children born with microtia and atresia. The Treacher Collins Network - A condition that affects the craniofacial area with slight to very severe anomalies. The most widely affected area is that of the cheek bones and jawbones, which are underdeveloped. This sometimes leads to breathing and eating complications. Other anomalies include microtia (absence or underdevelopment of the outer ear), hearing loss, abnormal eyelids, downward slanting of the eyes. 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" Acknowledgments

51. Health & Wellness, Support, Illnesses, Treacher Collins Syndrome, WebRing Ring directory of Health Wellness, Support, Illnesses, treacher collins syndrome, . Lists WebRings by topic. Allows searching WebRing database of http://dir.webring.com/rw?d=Health___Wellness/Support/Illnesses/Treacher_Collins

52. Health & Wellness, Support, Illnesses, Treacher Collins Syndrome, WebRing Ring directory of Health Wellness, Support, Illnesses, treacher collins syndrome, . Lists WebRings by topic. Allows searching WebRing database of http://dir.webring.com/rw?d=Health___Wellness/Support/Illnesses/Treacher_Collins

53. Entrez PubMed The treacher collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its Cterminus. Winokur ST, Shiang R. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9

54. Treacher Collins Syndrome - Children's Hospital Boston Home treacher collins syndrome. Flower treacher collins syndrome. Programs that treat this condition or perform this procedure http://www.childrenshospital.org/az/Site1783/mainpageS1783P0.html

or find by letter: A-F G-L M-R S-Z My Child Has... Home Treacher Collins Syndrome Treacher Collins Syndrome Programs that treat this condition or perform this procedure Craniofacial Anomalies Program Unfortunately, at this time, we are not able to provide information about this condition or procedure. However, we will be frequently adding and updating information in Child Health A to Z. So please bookmark this site and visit us again soon. Children's Hospital Boston is the primary pediatric teaching hospital of Harvard Medical School Contact Us Privacy Accessibility Give Now Children's Hospital Boston 300 Longwood Avenue Boston MA 02115

55. Treacher Collins Syndrome - Tech Support Guy Tech Support Guy offers free support to users of Windows XP, 2000, 98, and just about anything else! http://forums.techguy.org/t388733.html

56. Treacher Collins Syndrome Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 2/TREACHER COLLIN

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Treacher collins' syndrome, (Edward Treacher Collins, 18621932, British surgeon), autosomal dominant malformation with variable expression. The features of the syndrome are symmetrical. Hypoplasia of the malar bones and the mandible causes a hypoplastic face with sunken cheek bones. Eye abnormalities include a congenital notch in the lower eyelid margin (eyelid coloboma), and antimongoloid slanting of the palpebral fissure. The auricle is usually malformed and the external auditory meatus may be stenotic or atretic. The middle ear appears hypoplastic; the mastoid is unpneumatized. The tegmen tympani shows variable descent. Ossicular malformations are often present. The facial nerve very often follows an aberrant route through the temporal bone. The inner ear usually appears normal, although the lateral semicircular canal may be shortened and dilated. Apart from the head and neck manifestations, patients may have other abnormalities.

57. Treacher Collins Syndrome Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/TREACHER COLLINS

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Treacher collins syndrome, (Edward Treacher Collins, 18621932, English surgeon), syndrome caused by malformation of the structures derived from the first and second pharyngeal pouches, resulting in hypoplasia of the face with sunken cheeks, malformed ears, conductive nerve deafness and malocclusion of the teeth. Most cases are sporadic. Radiologically, there is hypoplasia of the malar bones, underdevelopment of the mandible, hypoplasia of the paranasal sinuses and congenital ear anomalies, which include absence of the external auditory canal and abnormalities of the ossicles. HC The Encyclopaedia of Medical Imaging Volume VII Corporate Products Financial Services Our Commitment ... Terms of Conditions

58. Characterization Of The Treacher Collins Syndrome Gene Such a situation exists for treacher collins syndrome (TCOF1), an autosomal dominant Craniofactal; treacher collins syndrome; Nucleolar phosphoptotein http://www.vipbg.vcu.edu/hg/grant/DE13172.shtml

D epartment of H uman G enetics Projects Characterization of the Treacher Collins Syndrome Gene National Institutes of Health Grant number Principal Investigator: Rita Shiang Co-investigators: Years: Abstract Keywords Craniofactal Treacher Collins syndrome Nucleolar phosphoptotein Development Mouse model information mission history relations contact ... highlights research facilities projects collaborations publications people faculty students staff directory ... jobs education seminars graduate courses graduate program Home Questions, comments, suggestions, problems? Contact the Webmaster Date last modified: August 27, 2001

59. Treacher Collins Syndrome treacher collins syndrome Information and Links. treacher collins syndrome Resources hospital houses, parent network, well spouse, http://www.doctorpage.com/findit/Diseases_and_Conditions/Treacher_Collins_Syndro

doctorpage Diseases and Conditions Treacher Collins Syndrome Displaying listings 1-6 NORD - Treacher Collins Foundation  http://www.stepstn.com/nord/org_sum/6.htm Parent to Parent List of Disabilities Served  http://www.parenttoparentnys.org/disabilities.html Resources hospital houses, parent network, well spouse, counseling http://www.vip.fi/~flax/syndrome/index.html The CaF Directory - (Treacher-Collins Syndrome) http://www.cafamily.org.uk/sample.html Treacher Collins Syndrome  http://www.geocities.com/HotSprings/5096/ Treacher Collins Syndrome - Resources hospital houses, parent network, well spouse, counseling http://www.vhl.org/newsletter/vhl1996/96abreso.htm Listings 1-6 of 6 displayed. Add a Site to This Page Get A Free Site Find Physicians Cosmetic Surgery ... Findit Try this search on... HotBot Infoseek AltaVista Excite ... Metacrawler doctor page .com

60. Craniofacial Center | Dallas, Texas treacher collins syndrome has been shown to occur with the same frequency in The chances of having a child with treacher collins syndrome are about 1 in http://www.thecraniofacialcenter.org/treachercollins.html

Treacher Collins Sydrome: Overview: Physical Traits Treatment

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