61. Stickler Syndrome Stickler syndrome refers to a group of disorders of the connective tissue that involves several of the http://my.webmd.com/hw/raising_a_family/nord421.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 Health Topics Symptoms ... For a Complete Report Stickler Syndrome Important It is possible that the main title of the report Stickler 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 Arthro-Ophthalmopathy Epiphyseal Changes and High Myopia Ophthalmoarthropathy Weissenbacher-Zweymuller Syndrome Disorder Subdivisions None General Discussion Stickler syndrome refers to a group of disorders of the connective tissue that involves several of the body’s organ systems such as the eye, skeleton, inner ear, and/or the head and face. Connective tissue is made up of a protein known as collagen that develops into the several varieties found in the body. It is the tissue that physically supports many organs in the body and may act like a glue or an elastic band that allows muscles to stretch and contract. Stickler syndrome often affects the connective tissue of the eye, especially in the interior of the eyeball (vitreous humor), and the ends of the bones that make up the joints of the body (epiphysis). Most authorities agree that there are four types of Stickler syndrome, of which three are reasonably well differentiated and a fourth remains not well understood.

62. Stickler Syndrome International network. Founded 1995. Network that offers support and education for persons affected http://my.webmd.com/hw/health_guide_atoz/shc29sti.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 ... Stickler Involved People Stickler Syndrome Stickler Involved People International network. Founded 1995. Network that offers support and education for persons affected by Stickler syndrome. This genetic disorder affects connective tissues, including the joints, eyes, palate, heart and hearing. Phone support, information and referrals, annual conference, literature, pen pals, newsletter. Online listserv. WRITE: SIP 15 Angelina Augusta, KS 67010 CALL: 316-775-2993 E-MAIL: sip@sticklers.org WEBSITE: http://www.sticklers.org VERIFIED: 10/11/2004 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

63. Stickler Syndrome Since the 1980 s, this condition has been called Stickler syndrome. Families are frequently not aware that they have Stickler syndrome until a child is http://www.pierrerobin.org/sticklersyndrome.html

Home New parents About Us Support ... Message Board A place to call home, where you are never alone Stickler Syndrome In 1965, Dr. Gunnar B. Stickler published a five year study entitled "Hereditary Progressive Arthro-Ophthalmology," associating severe ocular degeneration with degenerative joint changes. Since the 1980's, this condition has been called Stickler Syndrome. Sticklers is a genetic (in approximately 75% of the cases) connective tissue disorder which can affect the joints, eyes, palate, heart and hearing. It is an autosomal dominant trait, meaning that it can be passed on to both boys and girls from either parent. It only requires one parent to be affected. With each pregnancy, there is a 50% chance that the child will inherit Stickler Syndrome. Sticklers is an under diagnosed disorder because a patient can be affected in only certain areas. It is possible for other family members to affected differently and even more or less severely. Families are frequently not aware that they have Stickler Syndrome until a child is born with a palate abnormality, has early degenerative joint changes or a retinal detachment. If a child with PRS doesn't present with symptoms of Sticklers in infancy, they still could show up as the child gets older. Genetic testing is available but is found to be quite expensive and not perfected yet. Continued vigilance in vision, hearing and scoliosis screening needs to be maintained during childhood.

64. Stickler's Syndrome Stickler syndrome is a fairly common autosomal dominantly inherited disease characterized by a high incidence of retinal detachments, joint problems, http://www.ophth.uiowa.edu/Stickler.html

Stickler's syndrome Stickler syndrome is a fairly common autosomal dominantly inherited disease characterized by a high incidence of retinal detachments, joint problems, cataracts, and facial and dental abnormalities. The retinal detachments are often complex and difficult to repair, and are associated with an abnormality of the interface between the retina and the vitreous jelly. This abnormality is known as lattice degeneration and is much more common than the Stickler syndrome itself. Lattice degeneration is thought to play an important role in a large proportion of non-Stickler retinal detachments. It is hoped that by understanding the pathophysiology of Stickler retinal detachments, that we can gain further insight into the pathogenesis of detachments associated with common lattice degeneration. Stickler patients often suffer complicated retinal detachments that require specialized vitrectomy surgery to repair. Here, sulfur hexafluoride gas has been injected into the eye to help reattach the retina. In 1987, Francomano, et al. used chromosome linkage analysis to implicate a collagen gene (2A) in Stickler syndrome. In 1991, Ahmad, et al actually identified a mutation in this collagen gene in a family with Sticklers. In 1992, we identified a second collagen mutation in one of the eight families with Stickler syndrome that we have been studying. We have subsequently identified four additional Stickler mutations.

65. Stickler Syndrome Stickler syndrome refers to a group of disorders of the connective tissue that involves several of the body’s organ systems such as the eye, skeleton, http://www.bchealthguide.org/kbase/nord/nord421.htm

var hwPrint=1;var hwDocHWID="nord421";var hwDocTitle="Stickler Syndrome";var hwRank="1";var hwSectionHWID="nord421-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Stickler Syndrome Important It is possible that the main title of the report Stickler 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 Arthro-Ophthalmopathy Epiphyseal Changes and High Myopia Ophthalmoarthropathy Weissenbacher-Zweymuller Syndrome Disorder Subdivisions None General Discussion Most authorities agree that there are four types of Stickler syndrome, of which three are reasonably well differentiated and a fourth remains not well understood. Stickler syndrome Type I; (STL1): This form is responsible for about 75% of reported cases and presents with a full array of symptoms (eye, ear, jaw and cleft, joints). Stickler syndrome Type II; (STL2): Patients with this form also present with a full array of symptoms. Resources Stickler Syndrome Support Group PO Box 371 Walton-on-the-Thames Surrey, Intl KT12 2YS

66. Stickler Syndrome - [Support Group] 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 http://www.bchealthguide.org/kbase/shc/shc29sti.htm

var hwPrint=1;var hwDocHWID="shc29sti";var hwDocTitle="Stickler Syndrome";var hwRank="1";var hwSectionHWID="shc29sti-Header";var hwSource="en-caQ2_05";var hwDocType="Shc"; Self Help Clearinghouse Stickler Syndrome 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. Stickler Involved People International network. Founded 1995. Network that offers support and education for persons affected by Stickler syndrome. This genetic disorder affects connective tissues, including the joints, eyes, palate, heart and hearing. Phone support, information and referrals, annual conference, literature, pen pals, newsletter. Online listserv. WRITE: SIP 15 Angelina Augusta, KS 67010 CALL: 316-775-2993 E-MAIL: sip@sticklers.org WEBSITE: http://www.sticklers.org

67. Stickler Syndrome It is possible that the main title of the report Stickler syndrome is not the Stickler syndrome refers to a group of disorders of the connective tissue http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord421

68. Stickler Syndrome Stickler syndrome is a connective tissue disorder that can include ocular Variable phenotypic expression of Stickler syndrome occurs both within http://www.geneclinics.org/profiles/stickler/details.html

Stickler Syndrome [Arthro-Ophthalmopathy; Arthroophthalmopathy, Hereditary; Arthroophthalmopathy, Hereditary Progressive] Authors: Nathaniel H Robin, MD Rocio Tarvin Moran, MD Matthew Warman, MD About the Authors Initial Posting: 9 June 2000 Last Update 2 August 2005 Summary Disease characteristics. Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within families and among families; interfamilial variability is in part explained by locus and allelic heterogeneity Diagnosis/testing. The diagnosis of Stickler syndrome is clinically based. At present, no consensus minimal clinical diagnostic criteria exist. Mutations affecting one of three genes , and ) have been associated with Stickler syndrome; because a few families with features of Stickler syndrome are not linked to any of these three

69. Stickler - Marshall Syndrome Stickler syndrome is a connective tissue disorder which can include ocular Variable phenotypic expression of Stickler syndrome occurs both within http://ibis-birthdefects.org/start/sticksyn.htm

Tips for printing Stickler - Marshall Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Please Explore: 11 / 22 Translocation Cleft Lip Pierre Robin S. Cleft Palate ... Key Information Sources Topics include Titles and Stickler S. Type I - II - III Special Resources Stickler Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Group [Ukrainian] Stickler Syndrome by Nathaniel H Robin, MD et al. from GENE Clinics, last update: 8 June 2000. Arthro - Ophthalmopathy, Arthroophthalmopathy, Hereditary Progressive Arthroophthalmopathy Stickler syndrome is a connective tissue disorder which can include ocular findings of myopia, cataract, and retinal detachment; hearing loss which is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within families and between families. Interfamilial variability is in part explained by locus and allelic heterogeneity. The diagnosis of Stickler syndrome is clinically based. At present, no consensus minimal clinical diagnostic criteria exist. Mutations affecting one of three different genes (

70. Resources For Genetic Counselors - Stickler Syndrome You are probably already familiar with Stickler syndrome since you have it Discuss patient experience with Stickler syndrome and perceived burden http://www.genesoc.com/counseling2/article156.html

Modules Home FAQ Feedback Forums ... Your Account Who's Online There are currently, 5 guest(s) and member(s) that are online. You are Anonymous user. You can register for free by clicking here Languages Select Interface Language: Albanian Arabic Brazilian Catala Chinese Czech Danish Dutch English Euskara Finnish French Galego German Greek Hungarian Icelandic Indonesian Italian Macedonian Norwegian Polish Portuguese Romanian Russian Slovak Slovenian Spanish Swedish Thai Turkish Ukrainian Vietnamese Login Nickname Password Security Code: Type Security Code Don't have an account yet? You can create one . As a registered user you have some advantages like theme manager, comments configuration and post comments with your name. Old Articles Thursday, February 10 VATER Association Turner Syndrome Tuberous Sclerosis Trisomy 18 ... Older Articles Stickler Syndrome Posted on Thursday, February 10 @ 00:06:07 CST by debi Stickler Syndrome INTRODUCTIONS CONTRACTING ELICIT FAMILY HISTORY STICKLER SYNDROME (a.k.a. hereditary artho-ophthalmopathy) CLINICAL DESCRIPTION. Patients do not usually have all the symptoms!! - Type 1 characterized by a persistence of a vestigial vitreous gel in the retrolental space and is bordered by a folded membrane, present at birth.

71. Resources For Genetic Counselors - Velopharyngeal Inadequacy Stickler syndrome a. Most common cause of cleft palate Web www.geneclinics.org Stickler syndrome and 22q11 Deletion syndrome. http://www.genesoc.com/counseling2/article167.html

Modules Home FAQ Feedback Forums ... Your Account Who's Online There are currently, 5 guest(s) and member(s) that are online. You are Anonymous user. You can register for free by clicking here Languages Select Interface Language: Albanian Arabic Brazilian Catala Chinese Czech Danish Dutch English Euskara Finnish French Galego German Greek Hungarian Icelandic Indonesian Italian Macedonian Norwegian Polish Portuguese Romanian Russian Slovak Slovenian Spanish Swedish Thai Turkish Ukrainian Vietnamese Login Nickname Password Security Code: Type Security Code Don't have an account yet? You can create one . As a registered user you have some advantages like theme manager, comments configuration and post comments with your name. Old Articles Thursday, February 10 VATER Association Turner Syndrome Tuberous Sclerosis Trisomy 18 ... Older Articles Velopharyngeal Inadequacy Posted on Thursday, February 10 @ 00:18:34 CST by debi Velopharyngeal Inadequacy (VPI) I. Contracting A. What have you been told about VPI? B. What concerns would you like to address today? C. Discuss the agenda for the appointment 1. Dr. Doktour - geneticist

72. Cleft Lip And Palate - Related Syndromes [from CLAPA Ireland] Stickler syndrome (SS) is a connective tissue disorder, and is associated with problems of vision, Clinical and molecular genetics of Stickler syndrome. http://www.cleft.ie/related/

You are here: Home Page Related Syndromes Related Syndromes There are some 400 known syndromes associated with cleft lip and/or palate. A study (1970) Other studies have reported figures which may not be directly comparable with those listed above. A French investigation by Stoll et al (2000) Note: The large differences in the figures reported above may be due to the distinction between what constitutes a syndrome and what constitutes a malformation. A syndrome is where a number of conditions exist together, while referral to associated malformations may actually indicate a single condition existing in association with a cleft. [Eddie Byrne] Included are details of but a few known syndromes. Related Sections Research Chromosome Disorders Velocardiofacial syndrome Velocardiofacial syndrome (VCFS), also known as Shprintzen syndrome , is the syndrome most commonly associated with a cleft palate, most usually cleft of the soft palate. A cleft lip may also occur.

73. Minnesota DeafBlind Technical Assistance Project More information about genes in Stickler syndrome. DEFINITION Stickler syndrome is a genetic condition inherited in an autosomal dominant manner, http://www.dbproject.mn.org/syndromes/Stickler.htm

Home DB Overview Who We Are What We Do Causes (Etiologies) Education Families Interveners ... Contact Us includes map Minnesota DeafBlind Technical Assistance Project STICKLER Syndrome INFORMATION FOUND ON THIS WEB PAGE: Definition of SticklerSyndrome Frequency in the population Types of Stickler Syndrome High Myopia HEARING LOSS Balance Other Related Conditions ... Resources RELATED INFORMATION FOUND ON LINKED WEB PAGES: More information about High Myopia More information about inner ear balance ( Vestibular Loss More information about genes in Stickler Syndrome DEFINITION: Stickler Syndrome is a genetic condition inherited in an autosomal dominant manner, which means that a single copy of the altered gene is inherited from one of the parents and is passed on to 50% of the children. Individuals may have any or all of the following: hearing loss, vision loss due to high myopia (extreme nearsightedness), arthritis-like joint disease and cleft palate. Most also have a characteristic face with flat cheekbones. All are caused by genes affecting collagen, which are fibers in the cartilage of the joints, the jelly like substance that give a round shape to the eyeball (vitreous humor) and supporting structures of the ears and other organs. FREQUENCY: About 1 in 10,000 people have Stickler Syndrome

74. Web Links The Stickler syndrome Support Group lists these sites for information. A comprehensive list of web references to Stickler syndrome. http://www.stickler.org.uk/weblinks.htm

WEB LINKS This is a list of some of the sites on the World Wide Web providing information on Stickler syndrome. Visitors should be aware that medical practices and medicines used in the UK may be different to those used in other parts of the world. Conversely, treatments that may be obtainable in other parts of the world, may not be available in the UK. The Stickler Syndrome Support Group lists these sites for information. Views and information supplied by them are not necessarily those of the SSSG. www.sticklers.org The site of the US support group Royal National Institute for the Blind has a section on retinal detachments and an area for parents of children with impaired vision Wide Smiles is a US site with a lot of information on cleft lip and palate A comprehensive list of web references to Stickler syndrome. Useful, although not updated since 1996. www.vrmny.com is a US site with information on the anatomy of the eye and details of retinal detachments www.eyeconditions.org.uk Specific Eye Conditions (SPECS) is a not-for-profit organisation which provides support to a wide range of organisations dedicated to helping people with eye conditions. www.clapa.com

75. You Ll Find Hundreds Of Files On Cleft Lip, Cleft Palate Here On There are many doctors who do not know what Stickler syndrome is or what it Marfan syndrome is another syndrome sometimes confused with Stickler, http://www.widesmiles.org/cleftlinks/WS-899.html

You'll find hundreds of files on cleft lip, cleft palate here on widesmiles.org This one is about: Stickler Convention, July 1998 (c) 1998 Wide Smiles This Document is from WideSmiles Website - www.widesmiles.org Reprint in whole or in part, with out written permission from Wide Smiles is prohibited. Email: widesmiles@aol.com Melissa writes: Hi everyone. I guess the 2 highlights of our trip were meeting Dr. Stickler. Nancy and I had our picture made with him and I got 2 pics of Dr. Stickler holding Hannah also. They will be on our web page by tomorrow night. Another highlight was seeing appox. 150 - 200 new stickler faces. There were probably about 50 or so Stickies at the Convention, but all the physicians who presented had slides of Stickler patients they had treated. All together, it was like seeing close to 200 new stickler faces. The resemblance was amazing. It is hard to even describe the resemblance of everyone. When seeing infants and children, in person and from slides, front views and profiles - it was like looking at a huge scrap book of MY CHILD!!! My Gosh - Even my husband said that he doesn't care what any geneticist tells us, debating the stickler diagnosis - from seeing these 200 faces - there is no doubt in our minds that our child has Stickler Syndrome. Another highlight - (I guess that makes 3) was that we had a special dinner on Saturday night. My husband and I sat at a table with Dr. Lieberfarb - who according to Dr. Stickler has seen more Stickler patients than any other physician. She is a pediatrician and geneticist in Boston and has been doing Stickler case studies for 30 years. The information that follows is from her studies. We also sat with Dr. Doug Wilkins who is heading the research being done at the NIH (National Institute of Health). He was given a grant for Stickler Research and has a 5 year study in progress - for which we all signed up to be a part of. It was wonderful being in a relaxed atmosphere with 2 of the top Stickler researchers in the world.

76. Canadian Chapter Of Stickler Involved People Stickler syndrome, a connective tissue disorder; to provide detailed information, Stickler syndrome. We offer current medical information, ways to cope, http://www.barbspage.com/stickler.html

UPDATED May 23 2004 Canadian Chapter of Stickler Involved People Our Mission Our goal is to educate Canadians, as well as the medical community, about Stickler Syndrome, a connective tissue disorder; to provide detailed information, support and resources to Canadian families and individuals suffering from Stickler Syndrome. We offer current medical information, ways to cope, networking, supportive listeners, newsletter, and updates for Physicians. What is Stickler Syndrome? Stickler Syndrome is a relatively common connective tissue disorder. It is characterized by mild to severe myopia; complicated retinal detachments and/or vitreal degeneration at an early age; cleft palate; small lower jaw; progressive sensorineural hearing loss; hyper and hypo mobility of joints; various disabilities resulting from often unexplainable joint pain and degeneration; variable epiphyseal dysplasia; enlarged or "swollen" joints, particularly wrists, knees and ankles. Stickler syndrome should be considered in any infant that is displaying signs of Pierre Robin syndrome or sequence, along with enlarged joints, myopia

77. Canadian Chapter Of Stickler Involved People Stickler syndrome is an important issue for us our son Tyler is affected by this connective tissue disorder, as well as SEMD or Spondyloepimetaphyseal http://www.barbspage.com/

Welcome to the Shea's And the Canadian Chapter of Stickler Involved People Hi, and welcome to our little place on the web! We live just outside of Montreal, Canada (Yes, contrary to what SOME may believe it is still Canada!) We have created this site to hopefully pass on some important (and some not so important) information. Stickler syndrome is an important issue for us our son Tyler is affected by this connective tissue disorder, as well as SEMD or Spondyloepimetaphyseal Dysplasia. You can find more about Sticklers by following the links. We are actively involved in Standardbred horse racing here in Montreal. Stickler Syndrome Standardbred Canada Oral Deaf Education Igive ... Our Family : What we love (our kids!) and what we like to do This Stickler's WebRing site owned by Barb Lockey Previous 5 Sites Previous Next ... List Sites

78. Health Library - Stickler Involved People. International network. Founded 1995. Network that offers support and education for persons affected by Stickler syndrome. http://yalenewhavenhealth.org/library/healthguide/en-us/SelfHelp/topic.asp?hwid=

79. Print Manager Stickler syndrome. Table of Contents. Stickler syndrome Network that offers support and education for persons affected by Stickler syndrome. http://yalenewhavenhealth.org/WebApps/PrintFriendly/PrintManager.aspx?URL=/libra

80. Rare Pediatric Disease Database WHAT Stickler syndrome is a hereditary disorder of the connective SIGNS SYMPTOMS A person with Stickler syndrome may have the following symptoms* http://www.madisonsfoundation.org/content/3/1/display.asp?did=207

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