Home  - Health_Conditions - Sticklers Syndrome

Books Baby Camera Phones Computers Games DVD Electronics Kitchen Magazines Music Garden Software Tools Toys Video Apparel & Accessories Jewelry & Watches Musical Instruments Health & Personal Care Beauty Sports & Outdoors Office Products

e99.com Bookstore

Images

Newsgroups

61-80 of 91    Back | 1  | 2  | 3  | 4  | 5  | Next 20

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Sticklers Syndrome:     more detail

Stickler Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19 Stickler syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Jennifer, MS Wilson, 2005 Cleft Lip and Palate: Congenital disorder, Paul Tessier, Orbicularis oris muscle, Craniofacial team, Palatine uvula, Clefting prevalence in different cultures, ... syndrome, Stickler syndrome, Ralph Millard Stickler: the Elusive Syndrome by Wendy L. Hughes, 2006-11

lists with details

61. Stickler's Syndrome
    in this collagen gene in a family with sticklers. In 1992, we identified a secondcollagen mutation in one of the eight families with Stickler syndrome that we  
    http://www.ophth.uiowa.edu/Stickler.html
    
    Extractions: 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.

62. Stickler Syndrome
    great resources of information and provide ways to cope for those suffering fromStickler syndrome 1995 Nov.; 113 (11) 14547 5. http// www.sticklers.org/sip  
    http://web.nmsu.edu/~lleeper/pages/Stickler/
    
    Extractions: Stickler Syndrome, or S.S., is one of the most common hereditary disorders that affect the body’s collagen. It was first discovered and documented 34 years ago by Dr. Gunnar B. Stickler at the Mayo Clinic. Research began in 1960 when a 12 year old boy with heredity myopia and severe enlarge joints was seen the Mayo Clinic. Dr. Stickler’s paper titled “Hereditary Progress Artho-Opthalmopathy” (1965) associated severe myopia with joint changes. Since that time further genetic studies have linked Stickler Syndrome with cleft palate, sensorineural hearing loss, retinal detachment, and craniofacial abnormalities. It has also been genetically associated with Marshall Syndrome and Pierre Robin Sequence. Due to its high comparability, some studies have named the syndrome Marshall-Stickler and have suggested they are expressions of the same disorder. Stickler Syndrome is an autosomal dominant gen etic progressive condition that affects the body’s collagen, or connective tissue. Collagen is the major protein found in the body’s connective tissue, cartilage and bone. Current research has detected specific genes, which are responsible for the body’s collagen synthesis and breakdown and have been linked as a causal factor for Stickler Syndrome. (Phenotype Characteristics of Stickler Syndrome) classified as Type II Collagen the most abundant collagen found in cartilage and vitreous. A mutation in this gene causes Stickler Syndrome in 75% of the population diagnosed with the disorder and it has been classified as Type I Stickler Syndrome. The gene has been linked to chromosome 12 in many families. Not all symptoms are present at birth and may appear as development occurs. Symptoms include joint, sensorineural hearing loss, ocular and craniofacial (cleft palate) abnormalities.

63. Related Links
    Stickler Involved People (http//www.sticklers.org) This page providesgeneral information about Stickler syndrome. It provides  
    http://web.nmsu.edu/~lleeper/pages/VPIpln/related_links.htm
    
    Extractions: Related Links American Cleft Palate-Craniofacial Association and the Cleft Palate Foundation (http://www.cleftline.org) This site is a must-see for SLPs and provides a wealth of information. The site contains information for both parents and professionals (parent information is available in both Spanish and English). Blue Cross Blue Shield of Massachusetts' A Healthy Me: Health Topics A-Z: Velopharyngeal Insufficiency (http://www.ahealthyme.com/topic/topic100587645) At this site, J. Ricker Polsdorfer provides a brief description of VPI and diagnosis, treatment, and prognosis information. Cleft Lip Palate (http://pedclerk.bsd.uchicago.edu/cleftLip.html) At this site, Dr. Schwab provides an outline of information about cleft lip/palate for medical students at the University of Chicago. Included in the outline is information on the physical exam of the cleft palate and categories of cleft lip/palate. Good site to visit for general information and for insight as to what a doctor may be thinking in evaluating a child with a cleft lip/palate. Department of Speech Pathology and Audiology at the University of South Alabama( http://www.southalabama.edu/speechandhearing/Summary12.htm)

64. Diseases
    http//www.ifglobal.org/. Stickler syndrome Stickler Involved Peoplehttp//www.sticklers.org. National Organization for Rare Disorders  
    http://www.widhh.com/diseases.htm
    
    Extractions: The information contained in the Western Institute for the Deaf and Hard of Hearing (WIDHH) website is provided for informational purposes only. There is no implied endorsement by WIDHH. WIDHH does not promote or endorse participation in any specific organization. The information is subject to change without notice. Every effort is made to ensure that the details for each entry are as current as possible. DISEASES Acoustic Neuroma

65. Osteochondrodysplasia
    Atelosteogenesis dysplasia. Otopalatodigital syndrome. Diastrophic dysplasia.Kniest and Stickler dysplasia group, Kniests dysplasia. sticklers dysplasia.  
    http://www.amershamhealth.com/medcyclopaedia/Volume III 1/osteochondrodysplasia.
    
    Extractions: *For Medical Professionals only, registration required Osteochondrodysplasia, a skeletal disorder involving developmental abnormality of bone and cartilage. Numerous dysplastic disorders have been identified (Table 1). These conditions are discussed in more detail under their specific names. Osteochondrodysplasia, Table 1. Classification of osteochondrodysplasias. Achondroplasia group Thanatophoric dysplasia Classic (heterozygous) Achondroplasia Homozygous Achondroplasia Hypochondroplasia Achondrogenesis Spondyloepiphyseal dysplasia congenita Metatropic dysplasia group Fibrochondrogenesis Metatropic dysplasia Short rib dysplasia group Short rib syndromes with or without polydactyly Asphyxiating thoracic dysplasia ( Jeunes syndrome Ellis van Creveld syndrome Atelostoeogenesis and diastrophic dysplasia group Atelosteogenesis dysplasia Otopalatodigital syndrome Diastrophic dysplasia Kniest and Stickler dysplasia group Kniests dysplasia Sticklers dysplasia Other spondyloepimetaphyseal dysplasias X linked spondyloepiphyseal dysplasia tarda Progressive pseudorheumatoid chondrodysplasia Dyggve Melchior Clausen dysplasia Pseudoachondroplasia Spondylometaphyseal dysplasias

66. Canadian Chapter Of Stickler Involved People
    Stickler syndrome Support Group, England. Colorado SIP. Geneclinics has a verycomplete review of sticklers. Free registration. Our National Conferences.  
    http://www.barbspage.com/stickler.html
    
    Extractions: UPDATED July 21, 2002 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

67. Canadian Chapter Of Stickler Involved People
    Stickler syndrome is an important issue for us our son Tyler is affected by thisconnective tissue You can find more about sticklers by following the links.  
    http://www.barbspage.com/
    
    Extractions: 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 Barb's Discovery Toys Business Page : I have a home-based business - selling Fun! Please feel free to learn more about the great products from Discovery Toys. This Stickler's WebRing site owned by Barb Lockey

68. Eye Health Organizations List
    Augusta, KS 67010 (316) 7752993 sip@sticklers.org http//www.sticklers.org Providesinformation and support to people with Stickler syndrome, a connective  
    http://www.nei.nih.gov/health/organizations.htm
    
    Extractions: Health Funding News Laboratories ... Health Information The following organizations provide eye health-related informationto the public. You may find it useful to contact them about your information request. These organizations may also be able to refer you to resources in your area. American Academy of Ophthalmology

69. Stickler Syndrome
    Stickler Involved People 15 Angelina Augusta, KS 67010 Phone 316775-2993 Emailsip@sticklers.org www.sticklers.org. Stickler syndrome Support Group PO Box  
    http://www.geneclinics.org/profiles/stickler/details.html
    
    Extractions: Case Western Reserve University School of Medicine Posted: 9 June 2000 Disease characteristics. 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. Diagnosis/testing. The diagnosis of Stickler syndrome is clinically based. At present, no consensus minimal clinical diagnostic criteria exist. Mutations affecting one of three different genes ( , and ) have been associated with Stickler syndrome. Because a few families with features of Stickler syndrome are not linked to either of these three loci, mutations in other genes may also cause the disorder. In many patients and families, the diagnosis can be confirmed by clinically available molecular genetic testing.

70. 1Up Health > Health Links Directory > Support Groups: Conditions And Diseases: F
    Disorders (127). Sites. Dave Hawley's Stickler syndrome Page Indexes onlineinformation related to Stickler's syndrome. Stickler Involved  
    http://www.1uphealth.com/links/facial-differences-sticklers-syndrome.html
    
    Extractions: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites.

71. Cleft Lip And Palate - Related Syndromes [from CLAPA Ireland]
    Involved People) (USA) www.sticklers.org/sip/def.html (accessed 12 July 2000). (13)Snead,MP, Yates, JR. Clinical and molecular genetics of Stickler syndrome.  
    http://www.cleft.ie/related/
    
    Extractions: 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.

72. Coalition For Heritable Disorders Of Connective Tissue
    15 Angelina, Augusta, KS 67010 Tel 316775-2993 • Fax 316-733-1539 E-mail sip@sticklers.orgWeb page www.stickler.org. WILLIAMS syndrome ASSOCIATION (WSA  
    http://www.chdct.org/members.htm

73. Journal
    is Stickler syndrome. Almost half of all babies showing characteristics of a smallchin, cleft palate, eating and/or breathing problems also have sticklers.  
    http://community.webtv.net/jollyo/journal
    
    Extractions: Jaw Distraction Journal Week 3 - (Feb.29 - Mar.6 '00) We have an appointment on March 9th with the General Surgeon (Dr. Meier), to discuss the G-tube. Garland Neal is doing good, his swelling is almost all gone and you can now feel the hardware that is screwed to his jaw bone. We are in the process of getting our insurance to approve the in-home speech and oral/motor threapy twice a week. This therapy will help Garland Neal master swallowing and tongue control. click here to learn more about Stickler Syndrome. Some experts will say that every baby born with PRS has a genetic syndrome associated with it and that there is no such thing as "isolated PRS". At this point, I'm not sure what I think. Garland Neal also had his 4 month check-up (a little late), he got his immunizations and is healthy for now. We are getting ready for April 11th.... surgery date! Garland Neal also broke his all time record this week by pulling out his NG tube 4 times. I can't wait for that G-tube, he won't be able to pull it out as easy, which means less stress for both of us. :-) Week 10 - (Apr.19 - Apr.25 '00) Things are getting better everyday....Garland Neal had his follow-up visits this week. Dr. Hobar said everything looked great and we don't have to come back for THREE months...wow! Dr. Meier wants to see us on May 11th to place the button on his feeding tube. Right now, until the site heals, there is a long tube coming out of his belly. Four weeks after placing the tube, they replace it with a short tube that opens with a button and is flush with his body. He will finally be able to play on his tummy once we get the button. April 28th is the big day.....that's when we will try the cap on Garland Neal's trach..I'm getting nervous, but I think he'll do fine because he's tolerating the Passy Muir valve so well now.

74. EnableNet - Enablenet.browse.browse
    States offers a range of information related to Stickler syndrome including copingtips, online newsletter, listserv and medical updates. www.sticklers.org/sip.  
    http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=1955

75. Stickler Involved People
    Call (316)7752993. - epiphyseal changes and high myopia opththalmoarthropathy weissenbacherzweymuller syndrome mailtosip@sticklers.org http//www.sticklers  
    http://www.medhelp.org/amshc/amshc578.htm
    
    Extractions: Title: Stevens Johnson Syndrome Support Network Description: Provides information to persons who are affected by Stevens Johnson or toxic epidermal necrolysis syndromes, disorders usually caused by adverse reactions to either a drug or chemical or a virus. Aim is to build a support network to link persons together for support. Newsletter, literature, phone support network. Scope: International Founded: Address: Robertson Arbuckle

76. Who Has Sticklers
    For many years, sticklers was thought to be rare. However, recent findings suggestthat many instances of Stickler syndrome are classified under other, related  
    http://mick.murraystate.edu/cdi684/cdi684001/JVICK/page2c.htm
    
    Extractions: Who has Sticklers? One in 10,000 people have been diagnosed with Stickler Syndrome. Some experts think the incidence of the disorder may be as high as 3 in 10,000 due to misdiagnosed and undiagnosed cases. For many years, Sticklers was thought to be rare. However, recent findings suggest that many instances of Stickler Syndrome are classified under other, related disorders, such as Pierre-Robin Syndrome or Marfan Syndrome. Created by Jennifer Vick, CDI 684: Craniofacial Anomalies Murray State University, November 2000

77. Cleft Advocate - Syndromes
    syndrome The Skull Base Program Retrognathia SaethreChotzen Shprintzen syndrome(See VeloCardioFacial syndrome) Stickler syndrome sticklers.org Definition  
    http://www.cleftadvocate.org/syndromes.html
    
    Extractions: We subscribe to the HONcode principles of The Health On Net Foundation Learn More Resources Insurance Advocacy ... Cher's Family Retreat Washington, DC CPF Parent Conference Register Now! The Family-To-Family Connection CA Events Calendar Guestbook ... NICHCY National Information Center for Children and Youth with Disabilities The Genetic Alliance Supporting individuals with genetic conditions and their families Amniotic Band Syndrome

78. Arthritis Insight-Featured Discussion: Other Types Of Arthritis
    Stickler syndrome connective tissue disorder, a genetic malfunction in the tissuethat connects bones, heart, eyes, and ears. Try http//www.sticklers.org  
    http://arthritisinsight.com/feature/other/h-z.html

79. Stickler Syndrome
    Stickler Involved People http//www.sticklers.org Medical information, networking,news and updates. Dave Hawley's Stickler syndrome Page - http//hometown  
    http://www.medlina.com/stickler_syndrome.htm

80. PierreRobinSyndrome
    To relate that to Pierre Robin, if the Pierre Robin is in fact a syndrome, thenit would be something like Pierre Robin/sticklersrelated - - or, in this  
    http://otpt.ups.edu/listservs/ot-peds/threads/PierreRobinSyndrome.html

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

61-80 of 91    Back | 1  | 2  | 3  | 4  | 5  | Next 20