21. HONselect - Smith-Lemli-Opitz Syndrome English SmithLemli-opitz syndrome, - RSH Syndrome - RSH-SLO Syndrome - Smith-Lemli-OpitzSyndrome, Type I - Smith-Lemli-opitz syndrome, Type II - RSH SLO 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: SMITH-LEMLI-OPITZ, SYNDROME - RSH, SYNDROME - SYNDROME RSH - SYNDROME SMITH-LEMLI-OPTIZ Deutsch: Smith-Lemli-Opitz-Syndrom - RSH-Syndrom - SLO-Syndrom Español: SINDROME DE SMITH-LEMLI-OPITZ - SINDROME RSH Português: SINDROME DE SMITH-LEMLI-OPITZ - SINDROME 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 Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C16.131.077.860.html Last modified: Thu Jul 25 2002

22. Smith-Lemli-Opitz Syndrome by Anna V. Anagnostopoulos *MARCH 2001*. SmithLemli-opitz syndrome PosterChild Alternative names for the Smith-Lemli-opitz syndrome; SLOS. 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.

23. Smith-Lemli-Opitz Syndrome serine/threonine kinase 11 (PeutzJeghers Syndrome); PJS, LKB1. Alternative namesfor the Peutz-Jeghers syndrome. Medline MeSH Peutz-Jeghers Syndrome. http://tbase.jax.org/docs/Lkb1.html

Current Feature in TBASE by Anna V. Anagnostopoulos AUGUST 2001 [Images taken from HealthCentral.com] Alternative symbols/names for STK11 (official gene symbol) serine/threonine kinase 11 (Peutz-Jeghers Syndrome); PJS, LKB1 Alternative names for the Peutz-Jeghers syndrome Hutchinson-Weber-Peutz Syndrome; Intestinal Polyposis II Intestinal Polyposis-Cutaneous Pigmentation Syndrome; Jegher's Syndrome Lentigio-Polypose-Digestive Syndrome; Melanoplakia-Intestinal Polyposis Peutz-Touraine Syndrome; PJS; Polyposis, Hamartomatous Intestinal Polyps and Spots Syndrome Click here for OMIM clinical synopsis August 2001 features mice harboring a targeted disruption of the (serine/threonine kinase 11, also known as ) gene, located on mouse chromosome 10. Ylikorkala et al. report that (+/-) mice are viable, fertile and phenotypically indistinguishable from wild-type littermates. In contrast, (-/-) embryos perish at midegstation and display a number of developmental abnormalities, including neural tube defects, increased mesenchymal cell death, and vascular anomalies. These alterations are associated with tissue-specific deregulation of VEGF (at E8.5 and E9.5), including abnormally elevated levels of VEGF in the mesenchyme, heart and yolk sac. Such observations position in the VEGF signaling pathway and suggest that the vascular abnormalities characterizing disruption are mediated at least in part by VEGF. Moreover, these findings provide a rationale for the increased risk of cancer incidence in

24. Opitz Syndrome Opitz G/BBB Syndrome G Syndrome BBB Syndrome opitz syndrome (optiz syndrome Opitz Frais are misspelled n. SecondInternational. Opitz G/BBB Syndrome Conference! Opitz G/BBB. Syndrome. http://www.opitznet.org/right.html

25. Opitz Syndrome Opitz G/BBB Syndrome Skiing opitz syndrome Opitz G/BBB Syndrome disabled skiing. Downhill Skiingat NSCD. Winter was made for skiing! On Ben's fifth birthday, he http://www.opitznet.org/skinscd.html

26. The Contact A Family Directory - OPITZ SYNDROME printer friendly, opitz syndrome, Note that the Opitz G/BBB syndrome is separatefrom a completely different X chromosome condition called Opitz FG syndrome. http://www.cafamily.org.uk/Direct/o15.html

printer friendly OPITZ SYNDROME home more about us in your area conditions information ... how you can help search this site G Syndrome, Hypertelorism-Hypospadias Syndrome, Opitz-Frias syndrome, Opitz G/BBB 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.

27. The Contact A Family Directory - Index O see Congenital Central Hypoventilation Syndrome Ondine's Curse see Congenital CentralHypoventilation Syndrome OpitzFrias syndrome see opitz syndrome Opitz G http://www.cafamily.org.uk/Idx/o.html

printer friendly home more about us in your area ... how you can help search this site Please use the Index below to access the condition on which you require information. If you do not find what you want in the Index then try our search facility in the navigator on the left. Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online , you may wish to use our Contact a Family Helpline service. OCD see Anxiety Disorders OTC deficiency see Urea Cycle Disorders Obsessive compulsive disorder see Anxiety Disorders Occlusive Infantile Arteriopathy see Metabolic Diseases Occupational Lung Diseases see Lung Diseases Ocular Albinism see Albinism Ocular Muscular Dystrophy see Muscular Dystrophy and neuromuscular disorders Ocular Myasthenia see Myasthenia Gravis and other Myasthenic Syndromes Oculopharyngeal Muscular Dystrophy see Muscular Dystrophy and neuromuscular disorders Oculoauriculovertebral Dysplasia see Goldenhar Syndrome Oculo-cerebro-renal Syndrome see Lowe Syndrome Oculo-cutaneous albinism see Albinism Oesophageal Atresia see Tracheo-Oesophageal Fistula and/or Oesophageal Atresia Ohdo Blepharophimosis Syndrome see Ohdo Syndrome Ohdo Syndrome Oligoarthritis see Arthritis (Juvenile Idiopathic) Olivopontocerebellar Atrophy see Metabolic Diseases Olliers Disease Omenn's Syndrome see Primary Immunodeficiencies Ondine's see Congenital Central Hypoventilation Syndrome Ondine's Curse see Congenital Central Hypoventilation Syndrome Opitz-Frias syndrome see

28. Kennedy Krieger Institute Smith-Lemli-Opitz Syndrome Print this page SmithLemli-opitz syndrome SLOS is a genetic disorder thataffects the development of children both before and after birth. http://www.kennedykrieger.org/kki/kki_diag.jsp?pid=1104

29. Kennedy Krieger Institute Smith-Lemli-Opitz Syndrome Keyword Search Search SmithLemli-opitz syndrome SLOS is a genetic disorderthat affects the development of children both before and after birth. http://www.kennedykrieger.org/accessible/kki_diag.jsp?pid=1104

30. MedWebPlus Subject Diseases And Conditions Hereditary Diseases Web Sites A, , GO, GeneClinics Medical Genetics Knowledge BaseSmith-Lemli-opitz syndrome Authors TL Kurtzman; C Cunniff. A, -,GO, http://www.medwebplus.com/subject/Diseases_and_Conditions/Hereditary_Diseases/Sm

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: A GO GeneClinics: Medical Genetics Knowledge Base Smith-Lemli-Opitz Syndrome Authors: TL Kurtzman; C Cunniff A GO Online Mendelian Inheritance in Man SMITH-LEMLI-OPITZ SYNDROME, TYPE I (#270400) Flexis, Inc. Privacy statement Powered by y-Base

31. MedWebPlus Subject Periodicals Smith-Lemli-Opitz Syndrome MedWebPlus A service of Flexis, Inc. ADVERTISEMENT click here - ADVERTISEMENT- click here - ADVERTISEMENT advertisement ADVERTISEMENT http://www.medwebplus.com/subject/Periodicals/Smith-Lemli-Opitz_Syndrome

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. Periodicals Smith-Lemli-Opitz Syndrome Related Terms: Angelman Syndrome Down Syndrome Mitochondrial Myopathies Prader-Willi Syndrome Focussed Subsets: Enzymology Genetics Organizations Genetic Counseling ... therapy Web Sites: No web sites found. Flexis, Inc. Privacy statement Powered by y-Base

32. SMITH-LEMLI-OPITZ SYNDROME TYPE II (SEVERE LETHAL FORM) Features Listed For SMITHLEMLI-opitz syndrome TYPE II (SEVERE LETHALFORM). McKusick 268670. 46, XY with Mullerian structures; Absent http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1605

33. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Smith-Lemli-Opitz+Syndrome Similar pages More results from www.nlm.nih.gov MID1, mutated in opitz syndrome, encodes an ubiquitin ligase that MID1, mutated in opitz syndrome, encodes an ubiquitin ligase that targets phosphatase2A for degradation Alexander Trockenbacher 1 , Vanessa Suckow 2 , John http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Smith-Lemli-Opitz Syndrome

34. Erratum: MID1, Mutated In Opitz Syndrome, Encodes A Ubiquitin Ligase That Target doi10.1038/ng0102123b volume 30 no. 1 p 123 erratum MID1, mutated in opitz syndrome,encodes a ubiquitin ligase that targets phosphatase 2A for degradation http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v30/n1/full/ng0102-1

35. FBR Smith-Lemli-Opitz Syndrome - General Overview SmithLemli-opitz syndrome Researchers are focusing on Smith-Lemli-Opitz (SLO)syndrome, a serious inherited disorder occurring once in 20,000 births. http://www.fbr.org/projects/slo/slo-ov.html

General Overview ... to detailed description Smith-Lemli-Opitz Syndrome... New Tests will Identify Rare Genetic Disorder Before Birth Scientists at the Foundation for Blood Research (FBR) are working to develop a way to prenatally detect a rare genetic disorder, without using invasive procedures such as analysis of the amniotic fluid through amniocentesis. The National Institute of Child Health and Human Development is funding this 3-year project. Researchers are focusing on Smith-Lemli-Opitz (SLO) syndrome, a serious inherited disorder occurring once in 20,000 births. Children with this syndrome are unable to make enough cholesterol to support normal growth and development, resulting in mental retardation and physical abnormalities. Wendy Craig, Ph.D., Senior Research Associate at FBR, coordinates the project. She says, "We now know that this syndrome is caused by the patient's inability to convert a certain chemical found in the blood into cholesterol. We have also discovered that blood tests routinely performed on pregnant women to screen for Down syndrome identify a substance that is lower if SLO is present. Using these findings, we have developed a model that will be tested on 1,000,000 pregnancies over the next several years." This project marks a significant step forward in researchers' ability to accurately identify rare genetic disorders through blood tests.

36. FBR Smith-Lemli-Opitz Syndrome - General Overview .Feasibility of Prenatal Screening for Smith-Lemli-opitz syndrome......Foundation for Blood Research SmithLemli-opitz syndrome - Detailed http://www.fbr.org/projects/slo/slo-dd.html

Feasibility of Prenatal Screening for Smith-Lemli-Opitz Syndrome ... to general overview 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.

37. Herrmann-Opitz Syndrome I (www.whonamedit.com) Herrmannopitz syndrome I A severe developmental anomaly with mental retardation,acrocephalosyndactyly and long list of other abnormalities. Who named it? http://www.whonamedit.com/synd.cfm/1713.html

Home List categories Eponyms A-Z Biographies by country ... Contact Herrmann-Opitz syndrome I Associated persons: Jürgen Herrmann John Marius Opitz Description: A syndrome of mental retardation and acrocephalosyndactyly (German: Turri-Brachyzephalie), peculiar facies similar to Saethre-Chotzen syndrome, pronounced hypertelorismus, small chin, deep dysmorphic ears, cryptorchism, limitation of movement of the elbows, brachysyndactyly of fingers and toes with lack of fourth finger, and various associated abnormalities. Herrmann and Opitz in 1969 reported the condition in a boy whose parents and five siblings were normal. Bibliography: J. Herrmann, J. M. Opitz: An unusual form of acrocephalosyndactyly. Birth Defects Original Article Series, New York, 1969, 5 (3): 39-42. Ole Daniel Enersen

38. Smith-Lemli-Opitz Syndrome I (David W. Smith) (www.whonamedit.com) SmithLemli-opitz syndrome I (David W. Smith) A syndrome of multiple abnormalities,comprising mental retardation, microcephaly, growth retardation http://www.whonamedit.com/synd.cfm/1720.html

Home List categories Eponyms A-Z Biographies by country ... Contact Smith-Lemli-Opitz syndrome I (David W. Smith) Also known as: Smith's syndrome Synonyms: Cerebrohepatorenal syndrome, genito-palato-cardial syndrome, RSH syndrome, SLO syndrome. Associated persons: Luc Lemli John Marius Opitz David Weyhe Smith Description: A syndrome of multiple abnormalities, comprising mental retardation, microcephaly, growth retardation, hypoplastic external genitalia and a characteristic facies with micrognathia and anteverted nostrils. Onset in fetal life; feeble fetal activity; at birth short stature. Cardiac, renal and vertebral abnormalities may be present. The eyes may show strabismuss, cataracts and ptosis.The condition is potentially lethal in infancy and survivors have severe mental retardation. Inheritance is autosomal recessive. Smith, Lemli, and Opitz in 1964 described the disease picture in three unrelated boys. The authors later termed the disease picture RHS syndrome from the initial letters of the family names of the described patients. Bibliography: D. W. Smith, L. Lemli, J. M. Opitz:

39. CPS CPSP Resource Article Smith-Lemli-Opitz Syndrome SmithLemli-opitz syndrome CPSP resource article published February 2001. Surveillancefor Smith-Lemli-opitz syndrome (SLO) began on January 1, 2000. http://www.cps.ca/english/CPSP/Resources/RSmithLemliOpitz.htm

40. PCSP Article Ressource Le Syndrome Smith-Lemli-Opitz Smith-Lemli-opitz syndromeA common inherited error of metabolism causing mental retardation. http://www.cps.ca/francais/PCSP/ressource/RsyndromeSmithLemliOpitz.htm

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