61. Smith Lemli Opitz Syndrome Home Health Conditions and Diseases Genetic Disorders Smith Lemli opitz syndrome(3) See Also Smith Lemli opitz syndrome Advocacy and exchange. http://www.thenewhealthfind.com/Health/ConditionsandDiseases/GeneticDisorders/Sm

Directory Home Health Conditions and Diseases Genetic Disorders : Smith Lemli Opitz Syndrome (3) See Also: Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Cholesterol and Other Fats Health: Conditions and Diseases: Rare Disorders Smith Lemli Opitz Syndrome - Advocacy and exchange. Includes a detailed description, diagnosis, the natural history, biochemistry, genetics, treatment and contact details. NORD - Smith Lemli Opitz Syndrome - Offers a brief description, the synonyms and further resources. Emergency Medicine - An extensive article about Smith-Lemli-Opitz syndrome, a multiple congenital anomalies/mental retardation syndrome caused by a defect in cholesterol synthesis. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Quick Links glutamine side effects Zyban Side Effects Depression no prescription pharmacy ... fibromyalgia symptoms The New Health Directory Site Map Privacy Contact Advertise ... Health Directory

62. Health, Conditions And Diseases, Genetic Disorders: Smith Lemli Opitz Syndrome SmithLemli-opitz syndrome is a hereditary developmental disorder. Smith-Lemli-Opitzsyndrome is a hereditary developmental disorder. http://www.combose.com/Health/Conditions_and_Diseases/Genetic_Disorders/Smith_Le

Top Health Conditions and Diseases Genetic Disorders ... Smith Lemli Opitz Syndrome Related links of interest: Health:Conditions and Diseases:Nutrition and Metabolism Disorders:Cholesterol and Other Fats Health:Conditions and Diseases:Rare Disorders Emergency Medicine - An extensive article about Smith-Lemli-Opitz syndrome, a multiple congenital anomalies/mental retardation syndrome caused by a defect in cholesterol synthesis. NORD: Smith Lemli Opitz Syndrome - Offers a brief description, the synonyms and further resources. Smith Lemli Opitz Syndrome - Advocacy and exchange. Includes a detailed description, diagnosis, the natural history, biochemistry, genetics, treatment and contact details. Smith-Lemli-Opitz syndrome is a hereditary developmental disorder. It is characterized by nostrils that tilt forward (anteverted nares), drooping eyelids, webbing between the second and third toes, male genital abnormalities, mental retardation, and small stature. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor The combose.com directory is based on the

63. Smith-Lemli-Opitz Syndrome - General Practice Notebook SmithLemli-opitz syndrome. Described by Smith in 1964, this syndromeincludes microcephaly, growth and mental retardation, unusual http://www.gpnotebook.co.uk/cache/1476788271.htm

Smith-Lemli-Opitz syndrome Described by Smith in 1964, this syndrome includes microcephaly, growth and mental retardation, unusual facial appearance, syndactyly of toes 2 and 3, and genital abnormalities. Multiple major structural abnormalities are the exception in SLOS patients surviving infancy. Facial anomalies include ptosis, micrognathia and anteverted nares. Genital abnormalities occur in males, and include hypospadias, cleft scrotum and cryptorchidism. Developmental defects are generally associated with severe mental retardation, although borderline normal intelligence has been reported. A more severe phenotype, SLOS type II, was recognised in 1987. Infants have multiple major structural abnormalities and male pseudohermaphroditism; most die in the neonatal period. Both phenotypes seem to be inherited as an autosomal recessive trait, and are now thought to reflect different mutations within the same (as yet unidentified) gene. It is more commonly diagnosed in males because genital ambiguity is more obvious. Cholesterol levels are very low.

64. Program Nr 1527 Program Nr 1527 The incidence of SmithLemli-opitz syndrome (SLOS)in Ontario, Canada. MJM Nowaczyk 1,2 , VM Siu 3 , AGW Hunter http://www.faseb.org/genetics/ashg00/f1527.htm

Program Nr: 1527 The incidence of Smith-Lemli-Opitz Syndrome (SLOS) in Ontario, Canada. M.J.M Nowaczyk , V.M. Siu , A.G.W. Hunter , S. Farrell , D. McCaughey , D.T. Whelan

65. FBR Smith-Lemli-Opitz Syndrome - General Overview . Detailed Description. Smith-Lemli-opitz syndrome......Foundation for Blood Research SmithLemli-opitz syndrome - Detailed http://www.fbr.org/research/slo-dd.html

Detailed Description Smith-Lemli-Opitz Syndrome... Feasibility of Prenatal Screening for Smith-Lemli-Opitz Syndrome The Foundation for Blood Research has been awarded a grant from the National Institutes of Health to coordinate and evaluate data aimed at evaluating the efficacy of routinely identifying Smith-Lemli-Opitz Syndrome (SLOS) prenatally. This serious inherited metabolic disorder (birth prevalence 1:20,000) is characterized by moderate to severe mental retardation and congenital anomalies. Two circumstances now make it possible to carry out the proposed intervention trial. First, the cause of SLOS is now known to be a defect in the conversion of 7-dehydrocholesterol to cholesterol. This discovery makes it possible to confirm the diagnosis biochemically by measuring cholesterol precursors in the serum of affected individuals and in amniotic fluid. Secondly, the array of maternal serum analytes currently measured routinely to screen for Down syndrome in 2,000,000 U.S. pregnancies annually includes unconjugated estriol (uE3). This analyte requires cholesterol as a precursor, and its concentration in maternal serum is lower when the fetus has SLOS. The major barrier to identifying SLOS prenatally is the absence of sound screening methodology that takes into account the detection rate, the false positive rate, and the prevalence. We have developed a model based on actual data from SLOS pregnancies, and propose to test it in 1,000,000 pregnancies in which maternal serum uE3 is being measured along with other analytes, as part of routine screening for Down syndrome.

66. Opitz Syndrome,Opitz Syndrome,Opitz Syndrome,Opitz Syndrome opitz syndrome,opitz syndrome,opitz syndrome,opitz syndrome. For Informationon. Workshops and opitz syndrome (as defined by the National http://www.icomm.ca/geneinfo/opitz.htm

Opitz Syndrome,Opitz Syndrome,Opitz Syndrome,Opitz Syndrome For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Opitz Syndrome (as defined by the National Organization for Rare Disorders also known as: Disorder Subdivisions Find more information on the Internet with Select name of the disorder Opitz Syndrome SUPPORT GROUPS and information sites: Return to Top of Page

67. Smith-Lemli-Opitz Syndrome,Smith Lemli Opitz Syndrome,RSH Syndrome,Smith-Opitz-I SmithLemli-opitz syndrome,Smith Lemli opitz syndrome,RSH Syndrome,Smith-Opitz-InbornSyndrome,SLO,Smith Lemli opitz syndrome,RSH Syndrome Smith-Opitz-Inborn http://www.icomm.ca/geneinfo/slo.htm

Smith-Lemli-Opitz Syndrome,Smith Lemli Opitz Syndrome,RSH Syndrome,Smith-Opitz-Inborn Syndrome,SLO,Smith Lemli Opitz Syndrome,RSH Syndrome Smith-Opitz-Inborn Syndrome,SLO For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Smith-Lemli-Opitz Syndrome also known as: SLO RSH Syndrome Smith-Opitz-Inborn Syndrome (as defined by the National Organization for Rare Disorders Smith-Lemli-Opitz syndrome is a hereditary developmental disorder. It is characterized by nostrils that tilt forward (anteverted nares), drooping eyelids, webbing between the second and third toes, male genital abnormalities, mental retardation, and small stature. A Technical Article Smith-Lemli-Opitz Syndrome Richard I. Kelley, M.D., Ph.D. Introduction Smith-Lemli-Opitz syndrome (SLOS) is a well-known malformation syndrome with principal characteristics of psychomotor and growth retardation, cleft palate, hypospadias, postaxial polydactyly, and a distinctive craniofacial appearance consisting of microcephaly, ptosis, inner epicanthal folds, anteverted nares, and micrognathia. The first three cases of SLOS, all males with microcephaly and hypogenitalism, were described in 1964 (Smith et al. 1964) in three families with surnames beginning with R, S, and H, hence the designation by the original authors as the "RSH" syndrome.

68. Smith, Lemli Et Opitz (syndrome De) Translate this page Smith, Lemli et Opitz (syndrome de). Voir également 13. En anglais Smith-Lemli-opitz syndrome. Synonyme syndrome RSH. Ensemble http://www.vulgaris-medical.net/texts/smitopit.html

Smith, Lemli et Opitz (syndrome de) Voir également nanisme, microcéphalie, hypertélorisme, hypo-mandibulie, syndactylie, hypospadias, dermatoglyphe, Ulrich-Feichtigertypus rostockiensis, Patau (syndrome de) trisomie 13. En anglais : Smith-Lemli-Opitz syndrome. Synonyme : syndrome RSH. Ensemble de malformations dont le début est souvent intra-utérin (pendant la grossesse). Il s'agit d'une anomalie du métabolisme (fabrication) du cholestérol dont la mise en évidence a été récente. Cause Syndrome héréditaire dont la transmission se fait suivant le mode récessif autosomique (il est nécessaire que les deux parents portent l'anomalie génétique pour que l'enfant présente la maladie). Le gène défaillant pourrait être localisé sur le chromosome numéro 7. La cause actuellement avancée semble être un déficit en une enzyme, la 7-déhydro-cholestérol-delta-7 réductase, permettant la transformation du précurseur du cholestérol en cholestérol lui-même. Symptômes - Nanisme congénital (pendant la grossesse) harmonieux quant à ses proportions. - Ptôsis : affaissement de la paupière supérieure - Strabisme : défaut de parallélisme des yeux, s'accompagnant d'une déviation de l'un ou des deux yeux vers l'intérieur (strabisme convergent, couramment observé chez les petits-enfants) ou vers l'extérieur (strabisme divergent, touchant essentiellement l'enfant plus âgé et l'adulte). Une personne atteinte de strabisme louche.

69. Smith-Lemli-Opitz Syndrome Edited by Aldo Campana, August 13, 2003. http://www.gfmer.ch/Genetic_diseases/Smith-Lemli-Opitz_syndrome/Smith-Lemli-Opit

Selected medical images OMIM Smith-Lemli-Opitz syndrome Malformation syndromes due to inborn errors of cholesterol synthesis Sources Journal of Clinical Investigation (US) Print this page Edited by Aldo Campana, August 13, 2003

70. Health - Conditions And Diseases - Genetic Disorders - Opitz Top Health Conditions and Diseases Genetic Disorders opitz syndrome FamilyVillage Opitz G Syndrome information and contact links. http://www.sedirectory.net/Health/Conditions_and_Diseases/Genetic_Disorders/Opit

Web Hosting Dir Web Design Dir Search Engine Dir Hardware Info ... Resources Search: Top Health Conditions and Diseases Genetic Disorders ... Opitz Syndrome See also: Health: Conditions and Diseases: Nutrition and Metabolism Disorders Health: Conditions and Diseases: Rare Disorders Canadian Opitz Family Network - A description of Opitz G/BBB Syndrome. Family Village - Opitz G Syndrome information and contact links. National Library of Medicine: OS - Opitz syndrome, the synonyms, a summary and a list of major features. NORD: Opitz Syndrome - A look at the alternate names, a general discussion and resources. The Opitz G/BBB Family Network - Online support and information for families with Opitz G/BBB Syndrome. Provides families with easy-to-read information about the syndrome. Zach's Opitz Syndrome Site - Offers information, a family's experience with this syndrome and links to the Opitz Family Network.

71. NEJM -- Sign In Correspondence from The New England Journal of Medicine Diagnosis of SmithLemli-OpitzSyndrome. Next Next. Diagnosis of Smith-Lemli-opitz syndrome. http://content.nejm.org/cgi/content/full/330/23/1685

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Access to this article requires sign-in. Subscribers have access to all content. Other registered users have access to research articles six months old and older. If you're a registered user or an activated subscriber SIGN IN User Name Password Forgot your Password? Click here and we'll e-mail it to you. If you do not use cookies, sign in here. Remember my User Name and Password. PURCHASE THIS ARTICLE Purchase a single article and get immediate online access for just $10. If you're a subscriber but have not yet activated your full online access If you'd like to purchase a subscription to NEJM If you're not a subscriber and want FREE limited access... ACTIVATE YOUR SUBSCRIPTION Subscribers to NEJM are entitled to full access to all online content and features, including 20 FREE online CME exams. OR Receive full access to ALL current content and online features including Personal Archives, PDF article downloads, PDA access, E-mail alerts and 20 FREE online CME exams. OR Receive FREE online access to NEJM Original and Special Articles 6 months after publication and choose to receive the Table of Contents and notification of early release articles via e-mail.

72. Entrez PubMed The opitz syndrome a new designation for the clinically indistinguishableBBB and G syndromes. Cappa M, Borrelli P, Marini R, Neri http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

73. NORD - National Organization For Rare Disorders, Inc. Subdivisions BBB Syndrome (Opitz); G Syndrome. General Discussion Opitz G/BBBSyndrome or opitz syndrome is a genetic disorder that may be evident at birth. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Opitz G/BBB S

74. DHCR7 Phenotype SmithLemli-opitz syndrome. Phenotype Smith-Lemli-opitz syndrome. PhenotypeSmith-Lemli-opitz syndrome. Phenotype Smith-Lemli-opitz syndrome. http://mutdb.org/AnnoSNP/data/8A/S0/RA/AC.nt.html

75. Final Diagnosis -- Case 91 1). The syndrome was first called RSH syndrome, which derived from the surnamesof the three families, and later was named SmithLemli-opitz syndrome (SLOS). http://path.upmc.edu/cases/case91/dx.html

Final Diagnosis Smith-Lemli-Optiz Syndrome FINAL DIAGNOSIS: SMITH-LEMLI-OPITZ SYNDRME ( On-line reference ); CHROMOSOME 7q32.1 In 1964, Smith, Lemli, and Opitz described 3 unrelated male children with microcephaly, mental retardation, hypotonia, incomplete development of male genitalia, and dysmorphic facial features including high nasal bridge, long philtrum and board dental ridges( Cholesterol is a unique compound which is an important precursor for membrane lipids (including CNS myelin), gonadal and adrenal hormones, and bile acids. Therefore, it is not surprising that the inability to synthesis cholesterol would have far-reaching detrimental effects on the CNS, sexual, facial and skeletal development. It is also possible that elevated intermediate metabolites, such as 7-dehydrocholesterol, may have teratogenic effects on varies organ and skeletal development. With the advance in understanding of the biochemical mechanism of Smith-Lemli-Opitz syndrome, replacement therapy has been proposed and is currently under active investigation. Dietary intervention has been planned, because of previous success for dietary modification in the treatment of metabolic disorders, such as PKU (restricting the diet to prevent accumulation of harmful precursors) and congenital hypothyroidism (replacement of what is lacking). Current dietary intervention plans focus on providing cholesterol and bile acids in the diet to bypass their metabolic block, and such replacement therapy is under evaluation(14) (http://www.stepstn.com/nord/rdb_sum/292.htm).

76. Opitz Syndrome : A Serious Medical Condition. Resources To Obtain And Further Un opitz syndrome A serious medical condition. Informatorium recommendations listedbelow Your Book Search Results for the keywords include opitz syndrome . http://databank.oxydex.com/compendium_bibliographium/advanced_medical_specialtie

Opitz syndrome : A serious medical condition. Resources to obtain and further understanding of the topic. A starting point for researchers, physicians, medical school students, health and policy professionals, and other biotechnology and science professionals. (Not recommended to the lay public). Highly Recommended Resources Hand Picked to save you valuable searching time. welcome (C) 2000 Omegapoint Network Enterprises "The most incomprehensible thing about the world is that it is comprehensible." - Albert Einstein More Einstein Quotes bookmark this page for easy return ... you just might think of something later. Informatorium recommendations listed below: Your Book Search Results for: the keywords include "Opitz syndrome" 4 items are shown below. The Rett Syndrome John M. Opitz(Editor) X-Linked Mental Retardation John M. Opitz(Editor) X-Linked Mental Retardation 2 : Proceedings of the Second International Workshop on Fragile X and X-Linked Mental Retardation Held on Dunk Island, aut John M. Opitz, et al X-Linked Mental Retardation 3 : Proceedings of the Third International Workshop on Fragile X and X Linked Mental Retardation Held in Troina, Italy Se

77. Project: Het Smith-Lemli-Opitz Syndrome (NIWI) entire NIWI site (nl), Help. Project Het SmithLemli-opitz syndrome.switch to en. mutation. Titel-Eng, The Smith-Lemli-opitz syndrome. http://www.niwi.knaw.nl/nl/oi/nod/onderzoek/OND1264239/toon

Login NIWI (nl) Onderzoek Informatie NOD - Nederlandse Onderzoek Databank ... Powered by from "Project: Het Smith-Lemli..." entire NIWI site (nl) Project: Het Smith-Lemli-Opitz syndrome Titel-Eng The Smith-Lemli-Opitz syndrome Samenvatting Het Smith-Lemli-Opitz syndroom berust op een defect in de cholesterol biosynthese. Het enzymdefect zit in de laatste stap van de cholesterol biosynthese en betreft de reductie van 7- dehydrocholesterol naar cholesterol. Het onderzoek betreft de klinische, biochemische en moleculair genetische aspecten van het ziektebeeld. Ook therapeutische mogelijkheden worden bestudeerd. Pathofysiologisch is de belangrijkste vraagstelling of de symptomatologie zowel door het tekort aan cholesterol en ook door het teveel aan precursor als 7-dehydrocholesterol wordt veroorzaakt. Samenvatting-Eng The Smith Lemli Opitz syndrome originates from a defect in cholesterol biosynthesis. The enzyme defect lies in the last step of the cholesterol biosynthesis and concerns the reduction of 7- dehydrocholesterol into cholesterol. Our investigations concern the clinical, biochemical and molecular genetic aspects of the disease. Also therapeutical options are studied. Pathophysiologically it is important whether the symptomatology derives from the cholesterol shortage or perhaps also from the toxic influences of the precursor 7-dehydrocholesterol. Looptijd Betrokken organisaties Penvoerder: Afdeling Neurologie (KUN) Betrokken personen Onderzoeker:

78. Project: The Smith-Lemli-Opitz Syndrome (NIWI) entire NIWI site (en), Help. Project The SmithLemli-opitz syndrome.switch to nl. mutation. Titel, Het Smith-Lemli-opitz syndrome. http://www.niwi.knaw.nl/en/oi/nod/onderzoek/OND1264239/toon

Login NIWI (en) Research Information NOD - Dutch Research Database ... Powered by from "Project: The Smith-Lemli..." entire NIWI site (en) Project: The Smith-Lemli-Opitz syndrome Titel Het Smith-Lemli-Opitz syndrome Abstract The Smith Lemli Opitz syndrome originates from a defect in cholesterol biosynthesis. The enzyme defect lies in the last step of the cholesterol biosynthesis and concerns the reduction of 7- dehydrocholesterol into cholesterol. Our investigations concern the clinical, biochemical and molecular genetic aspects of the disease. Also therapeutical options are studied. Pathophysiologically it is important whether the symptomatology derives from the cholesterol shortage or perhaps also from the toxic influences of the precursor 7-dehydrocholesterol. Period Related organisations Secretariat: Department of Neurology (KUN) Related persons Project leader: Dr. J.G.N. de Jong Project leader: Prof.dr.ir. J.M.F. Trijbels Project leader: Prof.dr. R.A. Wevers Researcher: Drs. P.E. Jira

79. Health Library - Smith Lemli opitz syndrome. Synonyms Disorder Subdivisions General DiscussionResources SmithLemli-opitz syndrome is a hereditary developmental disorder. http://www.wellspan.org/library/healthguide/IllnessConditions/topic.asp?hwid=nor

80. Smith-Lemli-Opitz Syndrome Dhcr7 Knockouts A Mouse Model of RSH/SmithLemli-opitz syndrome. Alternative namesfor the Smith-Lemli-opitz syndrome; SLOS. The Smith-Lemli-opitz syndrome. http://tbase.jax.org/docs/Dhcr7.html

Current Feature in TBASE by Anna V. Anagnostopoulos *MARCH 2001* [Image taken from Disorder Zone Archives] Dhcr7 Knockouts: A Mouse Model of RSH/Smith-Lemli-Opitz Syndrome Alternative names for the Smith-Lemli-Opitz Syndrome; SLOS SMITH-LEMLI-OPITZ SYNDROME, TYPE I SLO SYNDROME, TYPE I RSH SYNDROME Click here for clinical synopsis March 2001 features mice harboring a targeted disruption of the (7-dehydrocholesterol reductase) gene, located on mouse chromosome 7 (F5). The replacement targeting vector was designed to disrupt by insertion of the neomycin phosphotransferase gene and deletion of coding exons III, IV and part of exon V. Wassif et al. report that Dhcr7 (+/-) mice are viable and phenotypically indistinguishable from wild-type littermates. In contrast, Dhcr7 (-/-) mice mice display a marked reduction of serum and tissue cholesterol levels as well as a marked elevation of serum and tissue 7-dehydrocholesterol levels and provide a genetic mouse model of the human RSH/Smith-Lemli-Opitz Syndrome . Phenotypic similarities encompass intrauterine growth retardation, variable craniofacial abnormalities including cleft palate, poor feeding with an uncoordinated suck, hypotonia, decreased movement, and neurological deficits. KNOCKOUT-RELATED SITES Selected Reading Database Links Your Suggestions on this Feature Selected Reading - Click on the Medline Link to View Abstract Wassif CA, Zhu P, Kratz L: Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome.

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