1. Opitz Syndrome / Family Village Library Opitz G Syndrome information and contact links. http://www.familyvillage.wisc.edu/lib_optz.htm

Opitz Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Opitz Syndrome" Who to Contact Opitz Family Network (OFN) PO Box 515 Grand Lake, Colorado, USA 80447 E-mail: opitznet@rkymtnhi.com Web: http://www.opitznet.org See also: Opitz -G, G, BBB, Opitz-Frias, or Hypertelorism-Hypospadias Syndromes. The Opitz Family Network provides families of children with Opitz Syndrome support and encouragement through referrals newsletters and easy to read articles. Their goal is to communicate and share successes and ideas about feeding, surgeries, oral motor and speech therapies, and all the other individual concerns parents have for their special children. They have local support groups, and provide parent matching upon request through a database. OFN Publishes the Opitz Family Newsletter , on an occasional basis and has brochures available that contain information about the network and the syndrome. The Network offers an new parent packet that contains a glossary of terms, descriptions, and the newsletter. Write of phone for further information. Where to Go to Chat with Others Opitz G/BBB A support group for families and professionals who love and want to help children and adults with Opitz G/BBB Syndrome Learn More About It Questions and Answers about Opitz Syndrome Opitz G/BBB Syndrome, X-Linked

2. EMedicine - Smith-Lemli-Opitz Syndrome : Article By Robert D Steiner, MD An extensive article about SmithLemli-opitz syndrome, a multiple congenitalanomalies/mental retardation syndrome caused by a defect in cholesterol http://www.emedicine.com/ped/topic2117.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Smith-Lemli-Opitz Syndrome Last Updated: July 1, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: RSH syndrome, SLOS, multiple congenital anomalies/mental retardation syndrome, MCA/MR, congenital malformations, dysmorphic facial features, microcephaly, toe syndactyly, learning disabilities, behavioral disabilities, gene AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Robert D Steiner, MD , Head, Division of Metabolism, Associate Professor, Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Coauthor(s): Laura S Martin, MD , Director, Department of Medical Genetics, Rockford Health System; Roderick F Hume, MD

3. New Page 1 Advocacy and exchange. Includes a detailed description, diagnosis, the natural history, biochemistry, genetics, treatment and contact details. http://members.aol.com/slo97/

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4. Zachs Opitz Syndrome Site Offers information, a family s experience with this syndrome and links to theOpitz Family Network. http://www.opitzsyndrome.com/

Hello and welcome to Zach's Opitz Syndrome Page. This page is dedicated to my sweet son,Zachary, who has Opitz G/BBB Syndrome and his little brother,Henry. This site is aimed at families with newly diagnosed case's of Opitz G Syndrome and anyone else interested in Opitz G Syndrome. I have also included a little about Zach's little brother, Henry. Here is the story of my two sweet kids. Also, please check out the photo's of our recent Opitz Family Syndrome Conference in Denver, Colorado. Thanks! or Picture's of Opitz Family Network Conference 1998!! Picture's of Opitz Family Network Conference 2001!! Pictures of Zach's Cleft Lip Surgery!! A Day in the life of Zach! ... A updated day in the life of Zach! (10-03) Information on Opitz Syndrome's. Opitz Family Network Opitz C Syndrome Family Network FG Syndome Family Alliance Family Village ... Many Faces Of Ben! Zach and his Uncle Jeff Please email me if you have any comments, idea's or suggestions. Click here to search Amazon for books on Special Needs, Disabilities, and More. Search: All Products Books Magazines Popular Music Classical Music Video DVD Baby Electronics Software Outdoor Living Wireless Phones Keywords: I hope you have enjoyed our family's web site. I would love to add some picture's and profile's of other children with Opitz-G Syndrome. If anyone in the Network would like to add anything to this site, email me. Bookmark this site as I am planning on adding some articles that I did'nt get to share at the conference. Please email if you have any comments, questions or ideas for this site.Thanks for stopping by and come back soon! Charlotte P.

5. NORD - National Organization For Rare Disorders, Inc. Offers a brief description, the synonyms and further resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Smith Lemli O

6. Opitz Syndrome (OS) opitz syndrome, the synonyms, a summary and a list of major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome498.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Opitz syndrome (OS) Synonyms Opitz-Frias syndrome autosomal dominant Opitz syndrome (ADOS) BBB syndrome BBBG syndrome BBB/G syndrome BBG syndrome G syndrome GBBB syndrome G/BBB syndrome hypospadias-dysphagia syndrome hypertelorism-hypospadias syndrome oculo-genito-laryngeal syndrome telecanthus-hypospadias syndrome X-linked Opitz syndrome (XLOS) Summary First reported as two separate disorders, the G syndrome and the BBB syndrome, the condition is now considered a single entity with a wide clinical variability, ranging from neonatal lethality to an asymptomatic form. Widely-spaced inner ocular canthi and hypospadias as the major features of this syndrome. Associated disorders may include craniofacial anomalies, congenital heart defects, laryngotracheal disorders with dysphagia and aspiration, developmental delay, and other abnormalities. Most symptoms occur in both genetically determined forms, except for anteverted nares and posterior pharyngeal cleft which are found only in X-linked families. The acronym BBB stands for the initials of the last names of each of the three originally reported families. Opitz described the G syndrome, also named after the affected family, consisting of apparent hypertelorism, mild downslanting of the palpebral fissures, epicanthal folds, hypospadias, and laryngotracheoesophageal defects. Major Features Head and neck: Mild micrognathia, cranial asymmetry, brachycephaly, prominent forehead, open fontanels, prominent metopic suture, and occipital and parietal prominences.

7. NORD - National Organization For Rare Disorders, Inc. A look at the alternate names, a general discussion and resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Mannosidosis

8. Opitz Syndrome (OS) opitz syndrome, the synonyms, a summary and a list of major features. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. EMedicine - Smith-Lemli-Opitz Syndrome : Article Excerpt By: Robert D Steiner, M SmithLemli-opitz syndrome - Smith-Lemli-opitz syndrome (SLOS) is a multiplecongenital anomalies/mental retardation (MCA/MR) syndrome caused by a defect in http://www.emedicine.com/ped/byname/smith-lemli-opitz-syndrome.htm

(advertisement) Excerpt from Smith-Lemli-Opitz Syndrome Synonyms, Key Words, and Related Terms: RSH syndrome, SLOS, multiple congenital anomalies/mental retardation syndrome, MCA/MR, congenital malformations, dysmorphic facial features, microcephaly, toe syndactyly, learning disabilities, behavioral disabilities, gene Please click here to view the full topic text: Smith-Lemli-Opitz Syndrome Background: Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies/mental retardation (MCA/MR) syndrome caused by a defect in cholesterol synthesis. SLOS is an autosomal recessive genetic condition caused by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase (7-dehydrocholesterol-delta 7-reductase, DHCR7, EC 1.3.1.21) the final enzyme in the sterol synthetic pathway that converts 7-dehydrocholesterol (7DHC) to cholesterol. Affected individuals usually have low plasma cholesterol levels and invariably have elevated levels of cholesterol precursors, including 7DHC. Severely affected individuals (those with the condition formerly referred to as SLOS type II) have multiple congenital malformations and are often miscarried or stillborn or die in the first weeks of life. Dysmorphic facial features, microcephaly, second- and third-toe syndactyly, other malformations, and MR are typical. Mildly affected individuals may have only subtle dysmorphic features and learning and behavioral disabilities. Pathophysiology: The classic paradigm for the pathogenesis of an inborn error of metabolism includes the accumulation of a toxic precursor and/or deficiency of an essential product as a result of an enzyme deficiency. In the case of SLOS, the precursor 7DHC is potentially toxic in large concentrations, and cholesterol deficiency is almost certainly detrimental. David Smith, Luc Lemli, and John Opitz initially described SLOS as a genetic MCA/MR syndrome in 1964. They named the condition RSH after the first initial of the last names of the first 3 patients ascertained. The clinical characteristics of SLOS have been well established over the past 4 decades.

10. Smith Lemli Opitz Syndrome LemliOpitz/RSH syndrome (SLO/RSH) is a genetic disorder that affects the development of children both before and after birth. The syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. "Opitz Syndrome" "Opitz GBBB Syndrome" FG Syndrome Opitznet Online support and information for families with Opitz G/BBB Syndrome. Provides families with easyto-read information about the syndrome. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. Opitz G/BBB Syndrome You have reached the website of of the Opitz G/BBB Family Network. For more information on Opitz G/BBB syndrome and its challenges click to enter. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Smith-Lemli-Opitz Syndrome / Family Village Library Learn More About It * Web Sites * Search Google for SmithLemli-opitz syndrome Smith-Lemli-Opitz/RSH syndrome (SLO/RSH) Network http://www.familyvillage.wisc.edu/lib_smith-lemli-opitz.htm

Smith-Lemli-Opitz Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Smith-Lemli-Opitz Syndrome" Who to Contact c/o Barbara Hook 2650 Valley Forge Drive Boothwyn, PA 19061 610-485-9663 (phone) E-mail: bhook@erols.com Web: http://members.aol.com/slo97/ In 1988, 37 families with SLO/RSH children began a network to exchange experiences and information about SLO/RSH. Since then, the membership has grown to more than 100 families in the United States and several foreign countries. In addition to informal networking and a regular newsletter, the Advocacy and Exchange sponsors regular national meetings where physicians, scientists, and parents can meet to learn more from each other. Another function of the Advocacy and Exchange is to promote and fund research on SLO/RSH. Where to Go to Chat with Others SLOS An Email list created for discussion and information sharing for Smith-Lemli-Opitz Families Learn More About It Smith-Lemli-Opitz Syndrome From eMedicine Smith-Lemli-Opitz Syndrome Medline Bibliography Features for Smith-Lemli-Opitz Syndrome Type I Features for Smith-Lemli-Opitz Syndrome Type II ... Smith-Lemli-Opitz Syndrome from OMIM Web Sites Smith-Lemli-Opitz Advocacy and Exchange Smith-Lemli-Opitz/RSH syndrome (SLO/RSH) Network Back to [ S - T Family Village Home Library Coffee Shop ... Information Last Updated 2/12/2004 by familyvillage@waisman.wisc.edu

14. Opitz Syndrome opitz syndrome Information, national and international support groups, clinics with genetic counselors and geneticists http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. GeneReviews: Smith-Lemli-Opitz Syndrome Your browser does not support HTML frames so you must view SmithLemli-OpitzSyndrome in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/slo/

Your browser does not support HTML frames so you must view Smith-Lemli-Opitz Syndrome in a slightly less readable form. Please follow this link to do so.

16. Genetic Conditions / Rare Conditions Information Site Skeletal dysplasia. Skin / dermatological conditions SmithLemli-opitz syndrome (RHS syndrome) Smith-Magenis syndrome (17p-) Sotos syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Smith-Lemli-Opitz Syndrome SmithLemli-opitz syndrome (SLOS) is a congenital multiple anomaly syndrome Smith-Lemli-opitz syndrome is characterized by prenatal and postnatal growth http://www.geneclinics.org/profiles/slo/details.html

Smith-Lemli-Opitz Syndrome [RSH Syndrome, SLO Syndrome, SLOS] Author: Christopher M Cunniff, MD, FACMG About the Author / Author History Initial Posting: 13 November 1998 Last Update 11 February 2004 Summary Disease characteristics. Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol reductase. It is characterized by prenatal and postnatal growth retardation, microcephaly, moderate to severe mental retardation, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, post-axial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide and individuals have been described with normal development and only minor malformations. Diagnosis/testing. The diagnosis of SLOS relies upon clinical suspicion and detection of elevated serum concentration of 7-dehydrocholesterol (7-DHC) or an elevated 7-dehydrocholesterol:cholesterol ratio. Although serum concentration of cholesterol is usually low, it may be in the normal range in about 10% of affected individuals, making it an unreliable test for

18. Smith-Lemli-Opitz Syndrome SmithLemli-opitz syndrome RSH Syndrome, SLO Syndrome, SLOS Author Christopher M Cunniff, MD, FACMG http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. Smith-Lemli-Opitz Syndrome / Family Village Library SmithLemli-opitz syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

20. Smith-Lemli-Opitz Syndrome The SmithLemli-Opitz/RSH syndrome (SLO/RSH) is a genetic disorder that affectsthe development of children both before and after birth. http://members.aol.com/slo97/main.htm

SLO/RSH The Smith-Lemli-Opitz/RSH syndrome Diagnosis In addition to growth retardation and developmental delay, many different malformations have been described in SLO/RSH. The most common defects are: - Microcephaly (small head) - Extra fingers or toes - Apparently low-set ears - Small, upturned nose - Webbing between 2nd and 3rd toes - Abnormal palmar creases (usually single) - Cleft palate - Hypospadias (genital malformation in boys) - Cataracts - Undescended testicles - Blepharoptosis (drooping eyelids) - Heart defects - Micrognathia (small chin) - Pyloric stenosis - Short thumbs - Hirschsprung disease (absent nerves in colon) Some children will have only one or two minor malformations, such as webbing of the toes and cleft soft palate, whereas others will have almost all of the defects listed above. Because of the possibility of internal malformations, patients with SLO/RSH should be evaluated carefully at birth, especially for heart and kidney defects. Often, children with SLO/RSH resemble one another more than others in their families. Whereas prior to 1993 the diagnosis of SLO/RSH rested entirely on the clinical judgment of a geneticist or other specialist, a biochemical test for abnormal cholesterol metabolism is now used to confirm a suspected diagnosis of SLO/RSH. Natural History Most children with SLO/RSH have feeding problems and "failure-to-thrive." Common feeding problems include trouble sucking and swallowing because of weakness, cleft palate, microgastria (abnormally small stomach), reflux, persistent vomiting, and pyloric stenosis. Other causes of failure-to-thrive may be internal malformations such as heart and kidney defects, Hirschsprung disease, or, more rarely, chronic liver disease. However, even children who are vigorous and feed well do not grow normally and tend to be small as children and adults. Almost all SLO/RSH children are born with small brains and have various degrees of slow development and mental retardation. Although not all children with SLO/RSH learn to walk and talk, many acquire good language and can learn skills. However, independent living as adults is unlikely. Lifespan can be limited by serious internal malformations, but with good nutrition and medical care, a normal lifespan is possible.

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