Entrez PubMed Click here to read The SmithLemli-opitz syndrome. The Smith-Lemli-opitz syndrome(SLOS) is one of the archetypical multiple congenital malformation syndromes. http://www.biomedcentral.com/pubmed/10807690
Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients. Moreover, the recent recognition of the important role of cholesterol in vertebrate embryogenesis, especially with regard to the hedgehog embryonic signalling pathway and its effects on the expression of homeobox genes, has provided an explanation for the abnormal morphogenesis in the syndrome. The well known role of cholesterol in the formation of steroid hormones has also provided a possible explanation for the abnormal behavioural characteristics of SLOS.
Smith Lemli Opitz Syndrome Smith Lemli opitz syndrome Important It is possible that the main title ofthe report Smith Lemli opitz syndrome is not the name you expected. http://my.webmd.com/hw/raising_a_family/nord292.asp
Opitz Syndrome opitz syndrome Opitz G/BBB Family Network Support, encouragement, education, and sharingof successes and ideas for families affected by OpitzG/BBB syndrome. http://my.webmd.com/hw/health_guide_atoz/shc29opi.asp
Extractions: The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; 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. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org
Smith Lemli Opitz Syndrome SmithLemli-opitz syndrome is a hereditary developmental disorder. NationalOrganization for Rare Disorders, Inc. Smith Lemli opitz syndrome. http://www.bchealthguide.org/kbase/nord/nord292.htm
Extractions: It is possible that the main title of the report 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. Information on the following diseases can be found in the Related Disorders section of this report: 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. Onset of Smith-Lemli-Opitz syndrome occurs before birth. Symptoms of the disorder include:
Opitz Syndrome Founded 1994. Support, encouragement, education, and sharing of successesand ideas for families affected by OpitzG/BBB syndrome. opitz syndrome. http://www.bchealthguide.org/kbase/shc/shc29opi.htm
Extractions: The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in the American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org
SMITH-LEMLI-OPITZ SYNDROME TYPE I Features Listed For SMITHLEMLI-opitz syndrome TYPE I. McKusick 270400.Abnormal liver (including function); Absent or hypoplastic http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1604
SMITH-LEMLI-OPITZ SYNDROME TYPE I 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
Extractions: Abigail Roberts Introduction Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder characterized by psychomotor and growth retardation, cleft palate, polydactyly, syndactyly, and a distinctive craniofacial appearance. SLOS is an inherited autosomal recessive disorder, which means that those with SLOS have inherited the defective gene from both parents. Couples who have one affected child have a 25% risk of having a child with SLOS in each pregnancy. For those individuals who already have a child with SLOS, prenatal testing is available for subsequent pregnancies. It is now estimated that SLOS occurs in 1 out of every 10,000 to 20,000 live births. This rate may be underestimated, however, because the recognition of SLOS in mildly affected patients, where only a few abnormalities are found, can be difficult. In addition, some individuals may have separate malformations that disrupt the diagnostically important facial characteristics. It does appear, however, that there is a higher frequency of SLOS in individuals of northern European ancestry and a lower frequency in people of Asian or African background. Features and Characteristics The following characteristics have been seen in more than 50% of patients: Microcephaly Blepharoptosis (drooping of the upper eyelids) Cleft palate Postnatal growth retardation Syndactyly of toes (webbing between toes) Mental retardation Hypospadias (developmental anomaly involving the urethra)
Genetic Disorders, Opitz Syndrome Submit Your Site to the opitz syndrome category. Sponsored opitz syndromeSites. Submit Your Site to the opitz syndrome category. Sponsored Results. http://www.iseekhealth.com/opitz_syndrome-1605.php
Genetic Disorders, Smith Lemli Opitz Syndrome More Smith Lemli opitz syndrome Categories » Submit Your Site to the SmithLemli opitz syndrome category. Sponsored Smith Lemli opitz syndrome Sites. http://www.iseekhealth.com/smith_lemli_opitz_syndrome-1622.php
Disease Directory : Genetic Disorders : Opitz Syndrome Diseases Genetic Disorders opitz syndrome. Clinical Trial Study ofSmithLemli-opitz syndrome - Study of Smith-Lemli-opitz syndrome. http://www.diseasedirectory.net/Genetic_Disorders/Opitz_Syndrome/default.aspx
Disease Directory : Genetic Disorders : Smith Lemli Opitz Syndrome Diseases Genetic Disorders Smith Lemli opitz syndrome. Behavioral phenotype ofRSH/SmithLemli-opitz syndrome. Print this page. Smith-Lemli-opitz syndrome. http://www.diseasedirectory.net/Genetic_Disorders/Smith_Lemli_Opitz_Syndrome/def
Extractions: Ablepharon-Macrostomia Syndrome ... Genetic Disorders : Smith Lemli Opitz Syndrome Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome. - Click here to read Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome. Smith-Lemli-Opitz syndrome is a metabolic disorder that is associated with autism. Emergency Medicine - An extensive article about Smith-Lemli-Opitz syndrome, a multiple congenital anomalies/mental retardation syndrome caused by a defect in cholesterol synthesis. FBR Smith-Lemli-Opitz Syndrome - General Overview - Smith-Lemli-Opitz SyndromeResearchers are focusing on Smith-Lemli-Opitz (SLO) syndrome, a serious inherited disorder occurring once in 20,000 births. Kennedy Krieger Institute: Smith-Lemli-Opitz syndrome - KKI Logo. Print this page. Smith-Lemli-Opitz syndrome. SLOS is a genetic disorder that affects the development of children both before and after birth. MedWebPlus: Subject: Hereditary Diseases: Smith-Lemli-Opitz ... - Web Sites: Entry. GO. GeneClinics: Medical Genetics Knowledge Base Smith-Lemli-Opitz Syndrome Authors: TL Kurtzman; C Cunniff. GO. Online References for Smith-Lemli-Opitz syndrome with the MeSH term ...
Extractions: The information contained in the Rare Disease Database (RDB) is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you order the full text version of this report from NORD, you can contact the agencies listed in the Resources section for more detailed information and avenues to support. In addition, your personal physician may be able to provide details specific to your case. 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).
Extractions: helpful? yes no Opitz syndrome; 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.
Extractions: 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 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.
Smith-Lemli-Opitz, Syndrome : Sites Et Documents Francophones Translate this page Smith-Lemli-Opitz, syndrome. Arborescence(s) du thesaurus MeSH contenant lemot-clé Smith-Lemli-Opitz, syndrome Smith-Lemli-opitz syndrome http://www.chu-rouen.fr/ssf/pathol/smithlemliopitzsyndrome.html
Extractions: Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; informations sur la pathologie, signes de la maladie, types de consultation adaptées, laboratoires de diagnostic, projets de recherche en cours, associations de patients ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2002 ; visité le : 22/08/2003].
"Opitz Syndrome" "Opitz GBBB Syndrome" G/BBB The Opitz G/BBB Syndrome Conference. Website developed by Jan Wharton, motherof a child with opitz syndrome and president Opitz G/BBB Family Network. http://www.opitznet.org/
Extractions: opitz syndrome "Opitz Syndrome" Opitz GBBB syndrome" Optiz syndrome" "Opitz G syndrome" "Opitz Frias Syndrome" opitz g syndrome opitz syndreom opitz g/bbb syndrome bbb syndrome opitz gbbb syndreom g syndrome opitz gbbb syndreome opitz syndrome opitz syndrome Opitz Syndrome Opitz G/BB This site developed by Jan Wharton B Topics Opitz G/BBB Syndrome Research Opitz G/BBB Family Network Conferences ... Other "Opitz" syndromes Logo was designed for our network specifically and is used under license of Karen G. Frandsen. P.O. Box 515, Grand Lake, CO 80447 USA http://www.opitznet.org This is NOT the website of Dr. Opitz, who discovered the syndrome This Page is available in and Italiano Free Online Translator pilartanoira@fibertel.com.ar para mas informacion What is the Opitz G/BBB Family Network? We are a parent-run support network for all individuals and families of children who have Opitz-G/BBB syndrome. The Opitz G/BBB Family Network was established in June of 1994 with the cooperation of Dr. John M. Opitz. We now have contact with 272 families from Argentina, Australia, Brazil, Canada, Denmark, England, Holland, Hungary, Ireland, Israel, Italy, Luxemburg, Mexico, New Zealand, Northern Ireland, Norway, Scotland, Slovakia, Spain, Switzerland, Wales, and the United States. We are listed with many international, national, state and local agencies.
Conditions And Diseases - Smith Lemli Opitz Syndrome Top Links Smith Lemli opitz syndrome Web Site Links. Smith Lemli opitz syndrome Advocacy and exchange. Includes a detailed description, diagnosis http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Genetic_Diso
Extractions: Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health Smith Lemli Opitz Syndrome Web Site Links Smith Lemli Opitz Syndrome Advocacy and exchange. Includes a detailed description, diagnosis, the natural history, biochemistry, genetics, treatment and contact details. Emergency Medicine An extensive article about Smith-Lemli-Opitz syndrome, a multiple congenital anomalies/mental retardation syndrome caused by a defect in cholesterol synthesis. Other Useful Health Web Links National Institutes of Health (NIH) US Government department in charge of medical research.
