41. Hill Health Topics A-Z - Opitz G/BBB Syndrome Disorder Subdivisions. BBB Syndrome (Opitz); G Syndrome. General Discussion.Opitz G/BBB Syndrome or opitz syndrome is a genetic disorder that may be http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord828&SE

42. OPITZ G/BBB SYNDROME: Contact A Family - For Families With Disabled Children: In Contact a Family is a UK charity for families with disabled children. We offerinformation on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/o15.html

printer friendly OPITZ G/BBB SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Opitz G/BBB syndrome; G syndrome; Hypertelorism-Hypospadias syndrome; Opitz-Frias syndrome Genetic knowledge has advanced since Professor John Opitz and his colleagues reported the condition in the 1970s. Professor Opitz is an eminent North American geneticist who did not favour the old system of naming syndromes after the doctor who first reports the condition. He named several conditions by representing the initials of the surnames of the first presenting families. However, a huge increase in the number of newly reported syndromes was one reason this system fell out of favour. The so-called type I and type II Opitz G/BBB syndromes appear the same but they may arise from different faults in one gene, or even from faults in quite different genes. This phenomenon is termed genetic heterogeneity and it is important for families because it complicates genetic risk prediction and makes gene testing more difficult. Probably, the autosomal dominant variety of Opitz G/BBB is commonest and in some families the gene fault or mutation is located on chromosome 22. In a few cases only, a chromosome 22q11-13 deletion has been diagnosed by a special (FISH) chromosome test.

43. SMITH-LEMLI-OPITZ SYNDROME: Contact A Family - For Families With Disabled Childr Contact a Family is a UK charity for families with disabled children. We offerinformation on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/s32.html

printer friendly SMITH-LEMLI-OPITZ SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital abnormality syndrome first described in 1964. Thirty years later, SLOS became the first such syndrome to be identified as an 'inborn error of metabolism', in this case due to deficiency of the enzyme called 7-dehydrocholesterol reductase. This enzyme normally drives the conversion of the chemical called 7-dehydrocholesterol to cholesterol. Therefore, deficiency of the enzyme leads to increased 7-dehydrocholesterol level and simultaneously restricts the body's ability to produce cholesterol. Although increased cholesterol in the blood leads to heart disease in adult life, cholesterol is also an essential chemical that governs normal development of the fetus during pregnancy and permits optimal growth and brain development after birth. Congenital abnormalities that are present in children with SLOS include microcephaly cleft palate , abnormalities of the fingers and toes (polydactyly and syndactyly) and abnormalities in development of the heart kidneys liver , and lungs . Not all these organs are affected in each case. Underdevelopment of external genitalia occurs in males. Some infants are very severely affected and, in the past, the most severe form of the condition was called SLOS type II. Miscarriage, stillbirth or death in the first weeks of life may occur in such severe cases. In surviving infants, slow growth and poor weight gain is the rule and feeding via a gastrostomy may be required.

44. TheFetus.net - Prenatal Ultrasound Findings Of Smith-Lemli-Opitz Syndrome-Sandra SmithLemli-opitz syndrome (SLO) is a common autosomal recessive disorder, Overlap of Smith-Lemli-opitz syndrome with disorders such as Meckel syndrome http://www.thefetus.net/page.php?id=442

45. Smith-Lemli-Opitz Syndrome Topic - Unified Search Environment RSH Syndrome CSP/ET/50020023 MSH/EP/D019082 MSH/PM/D019082 Smith-Opitz-Inbornsyndrome CSP/ET/5002-0023. Congenital Abnormality http://www.use.hcn.com.au/portals/shared/subject.`Smith-Lemli-Opitz Syndrome`/ho

Smith-Lemli-Opitz Syndrome Topic Tree Definition: hereditary developmental disorder; 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; biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol. Synonyms and Source Vocabularies: Smith-Lemli-Opitz Syndrome RSH-SLO Syndrome RSH Syndrome Smith-Opitz-Inborn syndrome Congenital Abnormality Abnormalities, Drug-Induced Abnormalities, Multiple Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome Bloom Syndrome Cockayne Syndrome ... Congenital neurologic anomalies

46. Opitz G/BBB Syndrome Opitz G/BBB Syndrome or opitz syndrome is a genetic disorder that may be evidentat birth. The syndrome may be characterized by distinctive malformations of http://www.bchealthguide.org/kbase/nord/nord828.htm

var hwPrint=1;var hwDocHWID="nord828";var hwDocTitle="Opitz G/BBB Syndrome";var hwRank="1";var hwSectionHWID="nord828-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Opitz G/BBB Syndrome Important It is possible that the main title of the report Opitz G/BBB 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 Opitz Syndrome BBBG Syndrome Hypertelorism with Esophageal Abnormalities and Hypospadias Hypertelorism-Hypospadias Syndrome Hypospadias-Dysphagia Syndrome Opitz BBB Syndrome Opitz BBBG Syndrome Opitz BBB/G Compound Syndrome Opitz G Syndrome Opitz Hypertelorism-Hypospadias Syndrome Opitz Oculogenitolaryngeal Syndrome Opitz-Frias Syndrome Telecanthus-Hypospadias Syndrome Opitz Syndrome Disorder Subdivisions BBB Syndrome (Opitz) G Syndrome General Discussion Opitz Syndrome was originally categorized as two distinct disorders: i.e., Opitz G and Opitz BBB Syndromes. Yet many investigators have since determined that the disorders represent the same clinical entity with different modes of genetic transmission. The form of the disorder previously designated as Opitz BBB Syndrome is transmitted as an X-linked trait. This X-linked disorder appears to be caused by changes (mutations) of a gene, known as MID1 (for "midline-1"), that is located on the short arm (p) of chromosome X (Xp22). The form originally classified as Opitz G Syndrome is inherited as an autosomal dominant trait. It is thought to result from deletions of genetic material from the long arm (q) of chromosome 22 (22q11.2).

47. Opitz Syndrome - [Support Group] This information is provided as a resource and does not constitute an endorsementfor any group. It is the responsibility of the reader to decide whether a http://www.bchealthguide.org/kbase/shc/shc29opi.htm

var hwPrint=1;var hwDocHWID="shc29opi";var hwDocTitle="Opitz Syndrome";var hwRank="1";var hwSectionHWID="shc29opi-Header";var hwSource="en-caQ2_05";var hwDocType="Shc"; Self Help Clearinghouse Opitz 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. Opitz G/BBB Family Network International. Founded 1994. Support, encouragement, education, and sharing of successes and ideas for families affected by Opitz-G/BBB syndrome. Maintains database of members, literature, information, e-group, phone support, and newsletter. Referrals to other families. Family conferences. WRITE: Opitz Family Network P.O. Box 515 Grand Lake, CO 80447 CALL: 970-627-8935 FAX: 970-627-8818 E-MAIL: opitznet@mac.com WEBSITE: http://www.opitznet.org VERIFIED: 6/2/2004 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.

48. Smith-Lemli-Opitz Syndrome Definition - Medical Dictionary Definitions Of Popula Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=21375

49. Project: The Smith-Lemli-Opitz Syndrome (www.onderzoekinformatie.nl) Abstract, The Smith Lemli opitz syndrome originates from a defect in cholesterolbiosynthesis. The enzyme defect lies in the last step of the cholesterol http://www.onderzoekinformatie.nl/en/oi/nod/onderzoek/OND1264239/toon

Login English KNAW Research Information NOD - Dutch Research Database ... Research entire www.onderzoekinformatie.nl site fuzzy match Project: The Smith-Lemli-Opitz syndrome Print View 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: Dr. P.E. Jira

50. Project: Het Smith-Lemli-Opitz Syndrome (www.onderzoekinformatie.nl) SamenvattingEng, The Smith Lemli opitz syndrome originates from a defect incholesterol biosynthesis. The enzyme defect lies in the last step of the http://www.onderzoekinformatie.nl/nl/oi/nod/onderzoek/OND1264239/toon

Login Nederlands KNAW Onderzoek Informatie NOD - Nederlandse Onderzoek Databank ... Onderzoek entire www.onderzoekinformatie.nl site fuzzy match Project: Het Smith-Lemli-Opitz syndrome Print View 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 (RU) Betrokken personen Onderzoeker:

51. HONselect - Smith-Lemli-Opitz Syndrome Translate this page Smith-Lemli-opitz syndrome, Type II - RSH SLO Syndrome - RSH Syndromes Syndrome de Smith-Lemli-Opitz de type I - Syndrome de Smith-Lemli-Opitz de type 1 http://www.hon.ch/HONselect/RareDiseases/C16.131.077.860.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Smith-Lemli-Opitz Syndrome - RSH Syndrome - RSH-SLO Syndrome - Smith-Lemli-Opitz Syndrome, Type I - Smith-Lemli-Opitz Syndrome, Type II - RSH SLO Syndrome - RSH Syndromes Français: Syndrome de Smith-Lemli-Optiz - Syndrome RSH - Malformation complexe de Smith-Lemli-Opitz - Nanisme de Smith-Lemli-Opitz - Syndrome de Smith-Lemli-Opitz de type I - Syndrome de Smith-Lemli-Opitz de type 1 - Syndrome de Smith-Lemli-Opitz de type II Deutsch: Smith-Lemli-Opitz-Syndrom - RSH-Syndrom - SLO-Syndrom Español: Síndrome de Smith-Lemli-Opitz - Síndrome RSH Português: Síndrome de Smith-Lemli-Opitz - Síndrome RSH HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: Yes Web sites: English Yes Français Yes Deutsch No Español No Português No Home About us Site map Search ... Contact http://www.hon.ch/HONselect/RareDiseases/C16.131.077.860.html Last modified: Wed May 18 2005

52. Smith-Lemli-Opitz Syndrome - RSH Syndrome - Information Page With HONselect Autosomal recessive disorder characterized by multiple congenital anomalies incl http://www.hon.ch/HONselect/RareDiseases/EN/C16.131.077.860.html

InitBulle("navy","#F8F8F8","#000066",1); HONcode sites All Web sites HONselect News ... Images HONselect Search English French German Spanish Portuguese the word the part of word in MeSH term in MeSH term and description Information on "Smith-Lemli-Opitz Syndrome": Medical hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Hierarchy English French German Spanish Portuguese Smith-Lemli-Opitz Syndrome Definition: Autosomal recessive disorder characterized by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities. The biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol. Synonym(s): RSH Syndrome / RSH-SLO Syndrome / Smith-Lemli-Opitz Syndrome, Type I / Smith-Lemli-Opitz Syndrome, Type II / Browse New search Web resources for "Smith-Lemli-Opitz Syndrome" English French = Site with HON description - = Site with a robot description info: enter the site: (click below) domain of the site: Smith-Lemli-Opitz syndrome - Genetics Home Reference ghr.nlm.nih.gov

53. CPS: CPSP Smith-Lemli-Opitz Syndrome Quality information on children s health and wellbeing, such as vaccination,pregnancy, infant care, healthy eating, common illnesses, safety, http://www.cps.ca/english/CPSP/Studies/SLO.htm

Smith-Lemli-Opitz syndrome Duration of study January 2000 to December 2002 Principal investigator Dr. Ma gorzata J.M. Nowaczyk, McMaster University, Department of Pathology and Molecular Medicine, Department of Pediatrics, Room 3N16, McMaster University Medical Centre, 1200 Main Street West, Hamilton ON L8S 4J9 Study publications/presentations CPSP resource Smith-Lemli-Opitz syndrome CPSP highlights CPSP 2002 Results: What have we learned? Surveillance of rare genetic disorders: No longer orphan diseases Smith-Lemli-Opitz syndrome: Which laboratory test confirms the diagnosis? Publications Incidence of Smith-Lemli-Opitz syndrome in Canada:Results of three-year population surveillance. Surveillance helping patients with orphan genetic disorders. MV Desantadina, KD Blake, MJM Nowaczyk. Presented at the he 80th Annual Meeting of the Canadian Paediatric Society, Calgary, June 21, 2003. Am J Med Genet 2003 (published on line January 17). Smith-Lemli-Opitz syndrome: Carrier frequency and spectrum of mutations in Canada. Waye JS, Nakamura LM, Eng B, Hunnissett L, Chitayat D, Costa TM, Nowaczyk MJM.

54. CPS: CPSP Resource Article Smith-Lemli-Opitz Syndrome Quality information on children s health and wellbeing, such as vaccination,pregnancy, infant care, healthy eating, common illnesses, safety, http://www.cps.ca/english/CPSP/Resources/RSmithLemliOpitz.htm

Smith-Lemli-Opitz Syndrome CPSP resource article published February 2001 Investigator : Ma gorzata Nowaczyk, MD Surveillance for Smith-Lemli-Opitz syndrome (SLO) began on January 1, 2000. In the first nine months, 27 reports were received of which 10 have been confirmed. The CPSP has been successful in identifying both newly diagnosed patients as well as patients with previous clinical diagnosis of SLO who received biochemical testing. As a result of this successful surveillance initiative, the McMaster University Molecular Diagnosis Laboratory has expanded its diagnostic service to include molecular testing. Molecular testing allows confirmation of diagnosis in deceased patients and reliable carrier testing in families with known mutations. To date, the diagnosis has been confirmed in three deceased patients on whom no biochemical testing was performed, and 14 new patients have been genotyped. SLO is caused by a generalized cholesterol deficiency resultant from an inherited biochemical defect that causes decreased production of cholesterol from its immediate precursor, 7-dehydrocholesterol (7DHC). SLO ranges from mildly abnormal facial features, with mental retardation and significant behavioural abnormalities, to severe birth defects causing stillbirths and miscarriages. SLO is diagnosed by demonstrating elevated 7DHC in plasma or in amniotic fluid. Sixty-seven different SLO mutations have been identified since the gene for SLO, called DHCR7, was found in 1998.

55. Smith-Lemli-Opitz Syndrome SmithLemli-opitz syndrome is a autosomal recessive malformative syndrome causedby mutations in the sterol delta-7-reductase gene (DHCR7) (MIM.602858), http://www.humpath.com/article.php3?id_article=1969

56. Opitz Syndrome opitz syndrome. MIM.300000 Xp22. Printable version. Etiology. mutations in theMID1 gene. Make a note. Forum de l article http://www.humpath.com/article.php3?id_article=4241

57. Smith Lemli Opitz Syndrome - St. Joseph Mercy, Ann Arbor Michigan Smith Lemli opitz syndrome St. Joseph Mercy Health System Hospitals servingAnn Arbor, SE Michigan, Washtenaw County, Livingston County, Wayne County, http://www.sjmercyhealth.org/15660.cfm

@import url(default.css); Online Health Information Health Information - Rare Diseases and Disorders Back to Health Library Print This Page Email to a Friend National Organization for Rare Disorders, Inc. Smith Lemli Opitz Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Smith Lemli Opitz 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 RSH Syndrome Smith-Opitz-Inborn Syndrome Disorder Subdivisions None General Discussion 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. Resources Smith Lemli-Opitz/RSH Advocacy and Exchange 2650 Valley Forge Drive Boothwyn, PA 19061 Tel: (610)485-9663 Email: bhook@erols.com

58. Final Diagnosis -- Case 91 SmithLemli-opitz syndrome is the third most common autosomal recessive inherited Diagnosis of Smith-Lemli-opitz syndrome should be suspected when a 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).

59. FBR Smith-Lemli-Opitz Syndrome - General Overview .......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.

60. Health/Conditions And Diseases/Genetic Disorders/Opitz Syndrome -- The Doctors L Ask the doctor. Get free medical consultation and advice. Choose a medicalspecialist and post your question! Doctors in all medical fields are available. http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Genetic_Disor

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites Canadian Opitz Family Network A description of Opitz G/BBB Syndrome. url: www.apollos.net/arena/opitz/definition.html Family Village Opitz G Syndrome information and contact links. url: www.familyvillage.wisc.edu/lib_optz.htm National Library of Medicine: OS Opitz syndrome, the synonyms, a summary and a list of major features. url: www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome4... NORD: Opitz Syndrome A look at the alternate names, a general discussion and resources. url: www.rarediseases.org/search/rdbdetail_abstract.htm... 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. url: www.opitznet.org

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