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Opitz Syndrome:     more detail

Smith-Lemli-Opitz Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18 Consider SLOS in children presenting with autism.(Behavioral Pediatrics)(Smith-Lemli-Opitz syndrome ): An article from: Pediatric News by Linda Little, 2005-06-01 Consider genetic disorder in some milder autism cases.(Child/Adolescent Psychiatry)(Smith-Lemli-Opitz syndrome ): An article from: Clinical Psychiatry News by Linda Little, 2005-08-01 Opitz syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Lisa, MS, CGC Andres, 2005 Smith-Lemli-Opitz syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Jennifer, MS Wilson, 2005 Opitz: Rett Syndrome by JM OPITZ, 1986-10-01 Brain malformations in a mouse model for the Smith-Lemli-Opitz syndrome and their implications for autism: (Dissertation) by Heather Waage-Baudet, 2005-09-01 The Man Behind the Syndrome by Peter Beighton, Greta Beighton, 1991-05-28 X-Linked Mental Retardation 3: Proceedings of the Third International Workshop on Fragile X and X Linked Mental Retardation Held in Troina, Italy Se by John M. Opitz, Giovanni Neri, et all 1988-12

lists with details

1. New Page 1
   Advocacy and exchange. Includes a detailed description, diagnosis, the natural history, biochemistry, Category Health Conditions and Diseases Smith Lemli opitz syndrome  
   http://members.aol.com/slo97/

2. Opitz Syndrome
   Comprehensive directory featuring general facts, history and treatment options. Offers links and support group details. The SmithLemli-Opitz/RSH syndrome (SLO/RSH) is a genetic disorder that affects the development of children both before  
   http://www.familyvillage.wisc.edu/lib_optz.htm
   
   Extractions: E-mail: opitznet@rkymtnhi.com 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. We are unaware of any discussion forums specifically for this diagnosis. However, there are several forums that may be of interest to parents of children with disabilities or special health care needs regardless of diagnosis. See

3. EMedicine - Smith-Lemli-Opitz Syndrome : Article By Robert D Steiner, MD
   An extensive article about Smith-Lemli-opitz syndrome, a multiple congenital anomalies/mental retardation Category Health Conditions and Diseases Smith Lemli opitz syndromeSmithLemli-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
   
   Extractions: (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 Last Updated: February 5, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: RSH syndrome, SLOS, multiple congenital anomalies/mental retardation syndrome, MCA/MR 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, Oregon Health and Science University Coauthor(s): Laura S Martin, MD , Director of Medical Genetics, Assistant Professor, Department of Pediatrics, Madigan Army Medical Center and University of Washington; Roderick F Hume, MD , Chief, Department of Clinical Investigation, Associate Professor, Department of Obstetrics and Gynecology, Madigan Army Medical Center Robert D Steiner, MD, is a member of the following medical societies:

4. Smith-Lemli-Opitz Syndrome
   Library S T. Smith-Lemli-opitz syndrome.  
   http://www.familyvillage.wisc.edu/lib_smith-lemli-opitz.htm

5. 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 Opitz-C (Trigonocephaly) syndromes  
   http://www.kumc.edu/gec/support/opitz.html

6. Smith-Lemli-Opitz Syndrome
   Smith Lemli opitz syndrome national and international groups, clinics with genetic counselors and geneticists  
   http://www.kumc.edu/gec/support/smith-le.html

7. Zach's Opitz Syndrome Site
   Offers information, a family's experience with this syndrome and links to the Opitz Family Network.  
   http://www.opitzsyndrome.com
   
   Extractions: 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! 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! 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.

8. Opitz G,Opitz, Syndrome, Lucas, Lucas Towstego, Towstego, G Syndrome, Bbb Syndro
   A description of Opitz G/BBB Syndrome.Category Health Conditions and Diseases opitz syndromeDefinition of Opitz G/BBB Syndrome. Not intended for Diagnosis. The names G and BBBwere combined. Most often now this condition is called Opitz G/BBB syndrome.  
   http://www.apollos.net/arena/opitz/definition.html
   
   Extractions: (Canada) 640 Hunter Place, Mill Bay, British Columbia V0R 2W0 Phone: 250-743-6604 Fax:250-743-6618 E-Mail Definition of Opitz G/BBB Syndrome Not intended for Diagnosis Opitz G/BBB syndrome is known by many syndrome names including: Opitz, Opitz-Frias, G, BBB, and Hypertelorism- hypospadias syndromes. This genetic condition includes a variety of midline anomalies. The degree of involvement among individuals , even within the same family, can vary greatly. Opitz G/BBB syndrome involves midline anomalies. Most often these include wide-set eyes and other features (hypertelorism), an abnormal opening in the penis (hypospadias), swallowing defects (dysphagia), an abnormality of the anal opening (imperforate anus), undescended testes (cryptorchidism), and a variety of clefts. Often there is a brain malformation called agenesis of the corpus callosum. In addition to these most common manifestations, there are many other anomalies associated with Opitz G/BBB syndrome. An individual does not have to exhibit each of these to have the diagnosis. These manifestations may include: It is important to prevent aspirations as pneumonias and damage to the lungs may result. Aspiration prevents oxygen from reaching the brain and may be responsible for mental deficiencies. Aspirations may cause death. Alternative feeding methods, including g-tubes are often used.

9. SMITH-LEMLI-OPITZ SYNDROME TYPE I
   Features Listed For SMITHLEMLI-opitz syndrome TYPE I Abnormal liver (including function) Absent or hypoplastic thumbs/pollices Advanced tooth eruption/development Congenital cardiac anomaly, unspecified Megacolon or Hirschsprung syndrome  
   http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1604

10. 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
    
    Extractions: 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.

11. NORD - Opitz Syndrome
    A look at the alternate names, a general discussion and resources.  
    http://www.stepstn.com/cgi-win/nord.exe?proc=Redirect&type=rdb_sum&id=82

12. 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
    
    Extractions: - 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. 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.

13. NORD - Smith Lemli Opitz Syndrome
    Offers a brief description, the synonyms and further resources.  
    http://www.stepstn.com/cgi-win/nord.exe?proc=GetDocument&rectype=0&recnu

14. 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/

15. Smith-Lemli-Opitz Syndrome
    Seattle. SmithLemli-opitz syndrome. RSH Syndrome, SLO Syndrome, SLOS Table1. Molecular Genetic Testing in Smith-Lemli-opitz syndrome. % of  
    http://www.geneclinics.org/profiles/slo/details.html
    
    Extractions: 6 November 2001 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. DNA analysis for mutations of the gene (chromosomal locus 11q12-q13) is available on a clinical basis and is used primarily for carrier detection and prenatal diagnosis.

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.med.jhu.edu/CMSL/SLOS.html

17. Zach's Opitz Syndrome Site!
    Kids on the train! Zach at the Talent Show Zach and Watermelon! Zach and Henry atthe picnic! Clark with the Hockey Mascot! Back to Zach's opitz syndrome Page.  
    http://www.opitzsyndrome.com/index2001.htm

18. Opitz G,Opitz, Syndrome, Lucas, Lucas Towstego, Towstego, G Syndrome, Bbb Syndro
    Synonyms It is possible that opitz syndrome may not be the name that you expected. OpitzSyndrome is a genetic disorder that may be evident at birth.  
    http://www.apollos.net/arena/opitz/nord_description.html
    
    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).

19. Special Child: Disorder Zone Archives - Smith-Lemli-Opitz Syndrome
    SmithLemli-opitz syndrome Chase Woodward. Abigail was born on February 22, 1999and within days was diagnosed with Smith-Lemli-opitz syndrome, or SLOS.  
    http://www.specialchild.com/archives/dz-030.html
    
    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)

20. Special Child: Disorder Zone Archives
    Syndrome PraderWilli Syndrome Rett Syndrome Rubinstein-Taybi Syndrome SanfilippoSyndrome Septo-Optic Dysplasia Smith-Lemli-opitz syndrome Smith-Magenis  
    http://www.specialchild.com/disorder.html
    
    Extractions: Williams Syndrome The Disorder Zone has been created for educational purposes only and is not intended to serve as medical advice. The information provided in The Zone should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If your child has any health concerns, please consult your health care provider. Welcome Editor's Note Success Stories Horror Stories ... The Resource Foundation for Children with Challenges

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