81. Alexa Web Search - Subjects > Health > Conditions And Diseases > Genetic Disorde opitz syndrome Subjects Health Conditions and Diseases Genetic Disorders opitz syndrome. Family Village Opitz G Syndrome information and contact links. http://www.alexa.com/browse/general?catid=907403&mode=general

82. PharmGKB: Smith-Lemli-Opitz Syndrome SmithLemli-opitz syndrome. Alternate Names RSH SLO Syndrome; RSH Syndrome;RSH Syndromes; RSH-SLO Syndrome; RSH-SLO Syndromes; Smith http://www.pharmgkb.org/do/serve?objId=PA446804&objCls=Disease

83. Smith-Lemli-Opitz Syndrome: A Treatable Inherited Error Of Metabolism Causing Me Smith­Lemli­opitz syndrome a treatable inherited error of metabolism causingmental retardation. Smith­Lemli­opitz syndrome in a 23year-old man. http://collection.nlc-bnc.ca/100/201/300/cdn_medical_association/cmaj/vol-161/is

CMAJ Contents Abstract Introduction Clinical features Genetics and epidemiology ... References Abstract Contents Smith SLOS is caused by a defect in cholesterol synthesis and presents with characteristic dysmorphic facial features, mental retardation, multiple congenital anomalies and failure to thrive. It was first described in 1964 and, until recently, was of limited clinical interest to primary care physicians because no diagnostic test or treatment was available. In 1994 the discovery of the underlying defect that affects cholesterol synthesis led to the development of a biochemical diagnostic test for SLOS. Despite the exciting research developments, we believe that this relatively common genetic disease remains unknown to primary care physicians. Because dietary therapy with cholesterol supplementation has been shown to have a considerable positive impact on the clinical course of this disease, increased physician awareness is needed to ensure that patients and their families receive appropriate diagnosis, treatment and genetic counselling. Contents Clinical features SLOS is characterized by dysmorphic facial features, microcephaly, growth retardation, multiple internal anomalies, cutaneous syndactyly of the second and third toes, and genital malformations.

84. PillSupplier.com - Conditions And Diseases/Genetic Disorders/Opitz Syndrome Category opitz syndrome. HOME ABOUT US ORDER STATUS BMI CALCULATOR FAQ CONTACT US. Conditions and Diseases/Genetic Disorders/opitz syndrome. Links http://www.pillsupplier.com/dir/876/

Category: Opitz Syndrome HOME ABOUT US ORDER STATUS BMI CALCULATOR ... CONTACT US Prescription Drugs Diet Pills Adipex Bontril Didrex ... Login Conditions and Diseases/Genetic Disorders/Opitz Syndrome Links: Canadian Opitz Family Network [rate it] [review it] A description of Opitz G/BBB Syndrome. Family Village [rate it] [review it] Opitz G Syndrome information and contact links. National Library of Medicine: OS [rate it] [review it] Opitz syndrome, the synonyms, a summary and a list of major features. NORD - Opitz Syndrome [rate it] [review it] A look at the alternate names, a general discussion and resources. The Opitz G/BBB Family Network [rate it] [review it] 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 [rate it] [review it] Offers information, a family's experience with this syndrome and links to the Opitz Family Network. Search Looking for something in particular? the entire directory only this category More search options Pages Updated On: Fri May 28 2004 - 04:40:41 About Us Frequently Asked Questions Contact Us Order Status ... Health Resources

85. DHCR7 Translate this page Reference. CM004033, 1, ATGg-ATA, Met-Ile, Smith-Lemli-opitz syndrome,1. CM001121, 37, TGGt-TGA, Trp-Term, Smith-Lemli-opitz syndrome, 2. CM980542, http://archive.uwcm.ac.uk/uwcm/mg/ns/1/9835302.html

Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference ATGg-ATA Met-Ile Smith-Lemli-Opitz syndrome TGGt-TGA Trp-Term Smith-Lemli-Opitz syndrome cCCC-TCC Pro-Ser Smith-Lemli-Opitz syndrome ATG-AGG Met-Arg Smith-Lemli-Opitz syndrome GAC-GTC Asp-Val Smith-Lemli-Opitz syndrome ACG-ATG Thr-Met Smith-Lemli-Opitz syndrome CTC-CCC Leu-Pro Smith-Lemli-Opitz syndrome CAGg-CAC Gln-His Smith-Lemli-Opitz syndrome CTT-CCT Leu-Pro Smith-Lemli-Opitz syndrome CAT-CTT His-Leu Smith-Lemli-Opitz syndrome GGC-GAC Gly-Asp Smith-Lemli-Opitz syndrome CTG-CGG Leu-Arg Smith-Lemli-Opitz syndrome gCAA-TAA Gln-Term Smith-Lemli-Opitz syndrome TGG-TAG Trp-Term Smith-Lemli-Opitz syndrome TGGc-TGA Trp-Term Smith-Lemli-Opitz syndrome ACG-AGG Thr-Arg Smith-Lemli-Opitz syndrome ACG-ATG Thr-Met Smith-Lemli-Opitz syndrome CTC-CCC Leu-Pro Smith-Lemli-Opitz syndrome gTTC-ATC Phe-Ile Smith-Lemli-Opitz syndrome TCG-TTG Ser-Leu Smith-Lemli-Opitz syndrome cGAC-CAC Asp-His Smith-Lemli-Opitz syndrome cTGG-CGG Trp-Arg Smith-Lemli-Opitz syndrome ATC-AAC Ile-Asn Smith-Lemli-Opitz syndrome CCA-CTA Pro-Leu Smith-Lemli-Opitz syndrome TGGt-TGC Trp-Cys Smith-Lemli-Opitz syndrome TGG-TTG Trp-Leu Smith-Lemli-Opitz syndrome TGC-TAC Cys-Tyr Smith-Lemli-Opitz syndrome cAAG-GAG Lys-Glu Smith-Lemli-Opitz syndrome TACa-TAA Tyr-Term Smith-Lemli-Opitz syndrome gCGC-TGC Arg-Cys Smith-Lemli-Opitz syndrome ?

86. Wauu.DE: Health: Conditions And Diseases: Genetic Disorders: Opitz Syndrome http//www.apollos.net/arena/opitz/definition.html. National Library of MedicineOS opitz syndrome, the synonyms, a summary and a list of major features. http://www.wauu.de/Health/Conditions_and_Diseases/Genetic_Disorders/Opitz_Syndro

Home Health Conditions and Diseases Genetic Disorders : Opitz Syndrome Search DMOZ-Verzeichnis: All Categories Categories Onlye Links: Canadian Opitz Family Network A description of Opitz G/BBB Syndrome. http://www.apollos.net/arena/opitz/definition.html National Library of Medicine: OS Opitz syndrome, the synonyms, a summary and a list of major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome498.html NORD - Opitz Syndrome A look at the alternate names, a general discussion and resources. Opitz G/BBB Family Network Support network for family members whose children have Opitz-G/BBB syndrome. http://rkymtnhi.com/opitz/ Zach's Opitz Syndrome Site Offers information, a family's experience with this syndrome and links to the Opitz Family Network. http://www.opitzsyndrome.com © 1998- 2002 Ein Service von Wauu.de UserNet.DE Linktip: MnogoSearch.ORG Map TopTen TopTen eng Aktuelle Linktips Mozilla 1.7 RC 1 Basteln 0190 Warner Free Rund ums Rad ... Fantasy - Shop Webmaster-Links Webspace Free Subdomain Service Merchandise Fun SUMA - Forum ... Abmahnungen œber Wauu Regeln Webmasterservice Impressum b

87. [Dysphagia] Re: Opitz Syndrome And Aspiration Of Saliva Date PrevDate Next Chronological Thread Top DysphagiaRe opitz syndrome and aspiration of saliva. Subject Dysphagia http://list.dysphagia.com/dysphagia/2003-April/msg00177.html

Date Prev Date Next [Chronological] [Thread] ... [Top] [Dysphagia] Re: Opitz syndrome and aspiration of saliva Subject [Dysphagia] Re: Opitz syndrome and aspiration of saliva From eripley@yahoo.com (Irene Campbell-Taylor) Date: Mon, 14 Apr 2003 19:58:09 -0700 (PDT) 18c.18d32fc7.2bcc711d@aol.com http://search.yahoo.com References [Dysphagia] Re: Opitz syndrome and aspiration of saliva From: SuzMorris@aol.com (SuzMorris@aol.com) Prev by Date: [Dysphagia] Too many puree diets/PEGs in a SNF? Next by Date: [Dysphagia] Too many puree diets/PEGs in a SNF? Index(es): Chronological Thread

88. Opitz Syndrome From Linkspider UK Health Directory opitz syndrome by Linkspider UK, opitz syndrome links and opitz syndrome topics fromour Health directory. Directory Topic opitz syndrome assoicated to Health. http://linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/OpitzSyndr

Match » -All words -Any word -Exact text Search » The Web Jobs / Vacancy Images / Photos FTP / Downloads United Kingdom United States of America Argentina Austria Australia Bangladesh Belgium Bolivia Brazil Bulgaria Canada Chile China Cuba Cyprus Czech Republic Czechoslovakia Denmark Dominican Republic Ecuador Egypt Estonia Finland France Germany Ghana Greece Hong Kong Hungary Iceland India Indonesia Ireland Israel Italy Japan Jordan Kenya Kuwait Latvia Lithuania Luxembourg Malaysia Malta Mexico Moldavia Monaco Morocco Mozambique Nepal Netherlands New Zealand Nicaragua Nigeria North Korea Norway Pakistan Panama Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Saudi Arabia Singapore South Africa South Korea Spain Sri Lanka Sweden Switzerland Taiwan Tanzania Thailand Tunisia Turkey Ukraine United Arab Emirates Uruguay Venezuela Yemen Yugoslavia Zambia Zimbabwe Ranking » On (no duplicate) Off (allow duplicate) Add my Site Toolbar Affiliates Directory Topic Opitz Syndrome assoicated to Health Directory Tree: 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.

89. Opitz G,Opitz, Syndrome, Lucas, Lucas Towstego, Towstego, G Syndrome, Bbb Syndro A description of opitz G/BBB syndrome. http://www.apollos.net/arena/opitz/definition.html

Opitz G/BBB Family Connection (Canada) 43 Swallow Street, Kitimat, British Columbia V8C 1K6 Phone: 250-632-7026 Fax:250-639-9062 E-Mail Definition of Opitz G/BBB Syndrome Not intended for Diagnosis Opitz G/BBB syndrome is known by many syndrome names including: Opitz, Opitz-Frias, G, BBB, and Hypertelorism- hypospadias syndromes. This genetic condition includes a variety of midline anomalies. The degree of involvement among individuals , even within the same family, can vary greatly. Opitz G/BBB syndrome involves midline anomalies. Most often these include wide-set eyes and other features (hypertelorism), an abnormal opening in the penis (hypospadias), swallowing defects (dysphagia), an abnormality of the anal opening (imperforate anus), undescended testes (cryptorchidism), and a variety of clefts. Often there is a brain malformation called agenesis of the corpus callosum. In addition to these most common manifestations, there are many other anomalies associated with Opitz G/BBB syndrome. An individual does not have to exhibit each of these to have the diagnosis. These manifestations may include: It is important to prevent aspirations as pneumonias and damage to the lungs may result. Aspiration prevents oxygen from reaching the brain and may be responsible for mental deficiencies. Aspirations may cause death. Alternative feeding methods, including g-tubes are often used.

90. Smith-Lemli-Opitz (SLO/RSH) Syndrome described in 1964 in three families with surnames beginning with R, S, and H. Theresearchers (Smith, Lemli and opitz) therefore called this syndrome RSH. . http://gslc.genetics.utah.edu/units/newborn/infosheets/SLO.cfm

Genetic Science Learning Center at the Eccles Institute of Human Genetics University of Utah Home ... Full Medical Reports Smith-Lemli-Opitz (SLO/RSH) Syndrome Smith-Lemli-Opitz (SLO/RSH) Syndrome The first three cases of this disorder were described in 1964 in three families with surnames beginning with R, S, and H. The researchers (Smith, Lemli and Opitz) therefore called this syndrome "RSH." Individuals with SLO/RSH syndrome are unable to make cholesterol, an essential nutrient required for proper development of cell membranes and the white matter of the brain. Because cholesterol is not provided to the developing fetus by the mother during pregnancy, symptoms develop before birth. As development continues after birth, lack of cholesterol can result in a variety of symptoms which vary in severity from individual to individual. Symptoms include growth retardation, developmental delay, feeding difficulties, behavioral problems and physical malformations such as small head, cleft palate, cataracts, drooping eyelids, extra (sixth) fingers or toes, webbing between the second and third toes, male genital malformations and heart defects. Genetics SLO/RSH syndrome results from a mutation in either the DHCR7 gene on chromosome 11 or the SLOS gene on chromosome 7. These genes code for essential enzymes required for the synthesis of cholesterol.

91. Smith-Lemli-Opitz, Syndrome : Arborescences MeSH Translate this page Smith-Lemli-opitz, syndrome arborescences MeSH. Menu généralCISMeF. Vous pouvez aussi consulter toutes les arborescences des http://www.chu-rouen.fr/navimesh/S/navismithlemliopitzsyndrome.html

Smith-Lemli-Opitz, syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF maladies et malformations congénitales, héréditaires et néonatales malformations malformations multiples Alagille, syndrome ... xanthomatose cérébrotendineuse 07 janvier 2004 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

92. ORPHANET - Maladies Rares - Médicaments Orphelins Bbb syndrome lie al x, Le syndrome d opitz était à l origine http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2745

93. MedWebPlus Subject Diseases And Conditions Hereditary Diseases http://medwebplus.com/subject/Diseases_and_Conditions/Hereditary_Diseases/Smith-

Main About MWP Contribute to MWP Contact Us A service of Flexis, Inc. Welcome to MedWebPlus 2.3! A free service to help you find health sciences information quickly and easily. Diseases and Conditions Hereditary Diseases Smith-Lemli-Opitz Syndrome Related Terms: Angelman Syndrome Down Syndrome Mitochondrial Myopathies Prader-Willi Syndrome Web Sites: Entry GO GeneClinics: Medical Genetics Knowledge Base Smith-Lemli-Opitz Syndrome Authors: TL Kurtzman; C Cunniff GO Online Mendelian Inheritance in Man SMITH-LEMLI-OPITZ SYNDROME, TYPE I (#270400) Flexis, Inc. Privacy statement Powered by y-Base

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