1. Opitz Syndrome / Family Village Library Library O P. opitz syndrome. Opitz G/BBB A support group for families and professionalswho love and want to help children and adults with Opitz G/BBB Syndrome. 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 SmithLemli-opitz syndrome - Smith-Lemli-opitz syndrome (SLOS) is a multiple congenitalanomalies/mental retardation (MCA/MR) syndrome caused by a defect in http://www.emedicine.com/ped/topic2117.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Smith-Lemli-Opitz Syndrome Last Updated: January 22, 2004 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 , Department of Maternal-Fetal Medicine, Rockford Health System Robert D Steiner, MD, is a member of the following medical societies:

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 Hello and welcome to Zach s opitz syndrome Page. This page is dedicatedto my sweet son,Zachary Information on opitz syndrome s. 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 opitz syndrome Information, national and international support groups, clinics with genetic counselors and geneticists opitz syndrome. OpitzG/BBB (Opitz-Frias), Opitz FG (Opitz-Kaveggia), or http://www.kumc.edu/gec/support/opitz.html

Opitz syndrome [Opitz-G/BBB (Opitz-Frias), Opitz FG (Opitz-Kaveggia), or Opitz-C (Trigonocephaly) syndromes] Opitz Family Network P.O. Box 516 Grand Lake, CO 80447 USA Phone: 970.627.8935 (Evenings, Weekends and all day most Mondays) E-mail: opitznet@rkymtnhi.com Smith-Lemli-Opitz/RSH syndrome (SLO/RSH) Advocacy and Exchange Syndrome 32 Ivy Lane Glen Mills, PA 19342 Phone: 610.361.9663 E-mail: bhook@erols.com URL: members.aol.com/slo97/index.html Opitz Trigonocephaly Syndrome Family Network (Opitz-C, of the Opitz Family Network) 11758 Biscayne Drive Baton Rouge, LA 70814 E-mail: otsfn@geocities.com Web page: www.geocities.com/HotSprings/Villa/1407/ FG Syndrome E-mail: fgsyndrome@geocities.com Canadian Opitz Family Network P.O. Box 892 Errington, BC Canada V0R 1V0 Phone: 250.954.1434 or 250.954.7524 Email: opitz@apollos.net Web site: www.apollos.net/arena/opitz/home.html Also See: Wide Smiles Cleft Lip and Palate Resource National Support Groups / Lay Advocacy Organizations , resources Locate a Genetic Counselor or Clinical Geneticist: Professional Genetics Societies Genetic clinics, centers, departments

7. Smith-Lemli-Opitz Syndrome / Family Village Library Library S T. Smith-Lemli-opitz syndrome. 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

8. 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.

9. Smith-Lemli-Opitz Syndrome Smith Lemli opitz syndrome national and international groups, clinics with genetic counselors and geneticists SmithLemli-opitz syndrome. Smith-Lemli-Opitz (SLO) Syndrome Network. 2650 Valley Forge Drive http://www.kumc.edu/gec/support/smith-le.html

Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz (SLO) Syndrome Network 2650 Valley Forge Drive Boothwyn, PA 19061 Phone: 610.485.9663 E-mail: bhook@erols.com Web site: www.med.unc.edu/~hwaage/SLO.html SLO Advocacy and Exchange Opitz Family Network P.O. Box 516 Grand Lake CO 80447 Phone: (970) 627-8935 Fax: (907) 627-8935 E-mail: opitznet@rkymtnhi.com Web site: rkymtnhi.com/opitz/ Opitz Trigonocephaly Syndrome Family Network Also See: National organizations , genetic conditions or birth defects Smith-Lemli-Opitz Type I features Type II features Smith-Lemli-Opitz , GeneClinics C Syndrome (Opitz Trigonocephaly Syndrome, Trigonocephaly Syndrome), OMIM FG Syndrome Family Alliance, Inc Society of Opitz Families Downunder, Inc ., (link not currently active, Apr 2003) Australia, families dealing with Opitz FG, G/BBB, or C Syndromes Smith-Lemli-Opitz Syndrome , eMedicine Smith-Lemli-Opitz Syndrome , Kennedy Krieger Institute To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments

10. 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

11. Smith-Lemli-Opitz Syndrome SLO/RSH. The SmithLemli-Opitz/RSH syndrome (SLO/RSH) is a genetic disorderthat affects the 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.

12. GeneReviews: Smith-Lemli-Opitz Syndrome Your browser does not support HTML frames so you must view SmithLemli-opitz syndromein 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.

13. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Diseases and Abnormalities at or before Birth opitz syndrome. Include trials that are no Study of SmithLemli-opitz syndrome. Conditions Abnormalities; Inborn Errors of Metabolism http://clinicaltrials.gov/ct/screen/BrowseAny?path=/browse/by-condition/hier/BC1

14. Smith-Lemli-Opitz Syndrome Seattle. SmithLemli-opitz syndrome. RSH Syndrome, SLO Syndrome, SLOS. Table1. Molecular Genetic Testing in Smith-Lemli-opitz syndrome. Test 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 patients, making it an unreliable test for screening and diagnosis.

15. Opitz G-BBB Syndrome Parents' Description of. Opitz G/BBB Syndrome. Copyright@Opitz G/BBB Family Network, Inc Not intended for diagnosis. Español. Italiano Opitz G/BBB syndrome, opitz syndrome, G syndrome, BBB syndrome, Opitz BBB/G syndrome, HypospadiasDysphagia syndrome, Opitz-Frias syndrome, Oculogenitolaryngeal syndrome Hypospadias syndrome are......Parents' http://www.opitznet.org/descrip.html

Parents' Description of Opitz G/BBB Syndrome Not intended for diagnosis Italiano Opitz G/BBB syndrome, Opitz syndrome, G syndrome, BBB syndrome, Opitz BBB/G syndrome, Hypospadias-Dysphagia syndrome, Opitz-Frias syndrome, Oculogenitolaryngeal syndrome, and Hypertelorism-Hypospadias syndrome are all names for the same condition. With this syndrome there can be different manifestations in individuals, even within the same family. This genetic syndrome includes a variety of midline and bilateral anomalies. A genetic syndrome is an hereditary condition caused by the genes of the family and ancestors of the affected child. It is not caused by something the mother did, or did not do, while pregnant. When an individual has a genetic syndrome they have manifestations, or anomalies, that are similar to other individuals who have the same syndrome. An anomaly is anything this is differently formed. The degree of involvement among individuals, even within the same family, can vary greatly. Opitz G/BBB syndrome is considered "uncommon." The number of affected individuals is unknown as the syndrome is not always accurately diagnosed. With careful medical treatment it is possible for individuals who have Opitz G/BBB syndrome to live long lives.

16. Smith- Lemli-Opitz Syndrome of Disorder.......Clinical Mass Spectrometry Laboratory. Kennedy Krieger Institute. 707 North Broadway.Baltimore, Md. 21205. SmithLemli-opitz syndrome. http://www.hopkinsmedicine.org/cmsl/SLOS.html

Clinical Mass Spectrometry Laboratory Kennedy Krieger Institute 707 North Broadway Baltimore, Md. 21205 Smith-Lemli-Opitz Syndrome Description of Disorder Bibliography with Abstracts Prenatal Diagnosis Background and Instructions Sample Submission Form Related Links SLO/RSH Advocacy and Exchange

17. Aalfs CM, Hennekam RC, Wanders RJ, Jira PE, Pilon JW, Wijburg FA. SmithLemli-opitz syndrome; a special defect in cholesterol metabolism. Dutch.Ned Tijdschr Geneeskd 1996;1401463-1466. The Smith-Lemli-opitz syndrome. http://www.hopkinsmedicine.org/cmsl/SLOS_Abstracts.html

Aalfs CM, Hennekam RC, Wanders RJ, Jira PE, Pilon JW, Wijburg FA. [Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism]. [Dutch]. Ned Tijdschr Geneeskd 1996;140:1463-1466. In a male neonate dysmaturity, microcephalia, a high nasal bridge, a long philtrum, broad dental ridges, schisis of the palatum molle, retrognathia, a small penis with a chorda, a small scrotum, bilateral inguinal hernia and bilateral syndactyly of the second and third toes were observed. The presence of the Smith-Lemli-Opitz (SLO) syndrome was suspected. By gas chromatography a severely decreased plasma cholesterol level (0.27 mmol/l) was found and an increased plasma 7-dehydrocholesterol level (0.24 mmol/l). The SLO syndrome is caused by a block in the cholesterol biosynthesis due to the autosomal recessive deficiency of 7-dehydrocholesterol reductase. The patient's condition improved with use of a cholesterol-enriched diet. Abuelo DN, Tint GS, Kelley R, Batta AK, Shefer S, Salen G. Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. Am J Med Genet 1995;56:281-285.

18. Opitz Syndrome - Information / Diagnosis / Treatment / Prevention home genetic disorders opitz syndrome opitz syndrome. NORD opitz syndromeA look at the alternate names, a general discussion and resources. http://www.healthcyclopedia.com/genetic-disorders/opitz-syndrome.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... genetic disorders > opitz syndrome Opitz Syndrome Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Health News Web Directory: Related Topics: Nutrition and Metabolism Disorders Rare Disorders Health News: Search millions of published articles for news on Opitz Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Canadian Opitz Family Network A description of Opitz G/BBB Syndrome. Family Village Opitz G Syndrome information and contact links. National Library of Medicine: OS Opitz syndrome, the synonyms, a summary and a list of major features. NORD: Opitz Syndrome A look at the alternate names, a general discussion and resources.

19. Smith Lemli Opitz Syndrome - Information / Diagnosis / Treatment / Prevention home genetic disorders smith lemli opitz syndrome Smith Lemli OpitzSyndrome. Smith Lemli opitz syndrome Advocacy and exchange. http://www.healthcyclopedia.com/genetic-disorders/smith-lemli-opitz-syndrome.htm

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... genetic disorders > smith lemli opitz syndrome Smith Lemli Opitz Syndrome Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News Web Directory: Related Topics: Nutrition and Metabolism Disorders/Cholesterol and Other Fats Rare Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "smith-lemli-opitz syndrome" Health News: Search millions of published articles for news on Smith Lemli Opitz Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Emergency Medicine An extensive article about Smith-Lemli-Opitz syndrome, a multiple congenital anomalies/mental retardation syndrome caused by a defect in cholesterol synthesis. NORD: Smith Lemli Opitz Syndrome Offers a brief description, the synonyms and further resources.

20. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Smith-Lemli-Opitz+Syndrome More results from www.nlm.nih.gov BioMed Central Full text Mig12, a novel opitz syndrome gene Mig12, a novel opitz syndrome gene product partner, is expressed in the embryonicventral midline and cooperates with Mid1 to bundle and stabilize http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Smith-Lemli-Opitz Syndrome

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