21. Arch Ophthalmol Abstract Retinal Degeneration In A Rodent Retinal Degeneration in a Rodent Model of SmithLemli-opitz syndrome Electrophysiologic, Biochemical, and Morphologic Features http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

22. Opitz Syndrome opitz syndrome Information, national and international support groups, clinicswith genetic counselors and geneticists. 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

23. Spectrum Of {Delta}7-dehydrocholesterol Reductase Mutations In Am. J. Med. Genet., 50, 344346.ISIMedline 3 Opitz, J.M. (1999) RSH (so-called Smith-Lemli-Opitz) syndrome. Curr. Opin. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

24. Smith-Lemli-Opitz Syndrome Smith Lemli opitz syndrome national and international groups, clinics with geneticcounselors and geneticists. 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

25. Smith- Lemli-Opitz Syndrome of Disorder Bibliography with Abstracts.Prenatal Diagnosis. Background and Instructions Sample Submission Form......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

26. Smith-Lemli-Opitz Syndrome - Genetics Home Reference Where can I find additional information about SmithLemli-opitz syndrome?What other names do people use for Smith-Lemli-opitz syndrome? http://ghr.nlm.nih.gov/condition=smithlemliopitzsyndrome

Home What's New Browse Handbook ... Search Smith-Lemli-Opitz syndrome Related Gene(s) Quick links to this topic MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog References Smith-Lemli-Opitz syndrome On this page: What is Smith-Lemli-Opitz syndrome? How common is Smith-Lemli-Opitz syndrome? ... help with understanding Smith-Lemli-Opitz syndrome? What is Smith-Lemli-Opitz syndrome? Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), mental retardation or learning disabilities, and behavioral problems. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly). The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely. Mildly affected individuals may have only minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening and involve profound mental retardation and major physical abnormalities.

27. Entrez PubMed More suicide attempts were reported among SmithLemli-opitz syndrome carriersthan among the comparison subjects. CONCLUSIONS These results, based on a http://ghr.nlm.nih.gov/gene=dhcr7/show/PubMed

My NCBI [Sign In] [Register] All Databases ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes Conserved Domains 3D Domains Gene Genome Project GENSAT GEO Profiles GEO DataSets HomoloGene Journals MeSH NCBI Web Site NLM Catalog OMIA OMIM PMC PopSet Probe PubChem BioAssay PubChem Compound PubChem Substance SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard Details About Entrez Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Mobile NLM Catalog NLM Gateway ... PubMed Central Display Summary Brief Abstract Citation MEDLINE XML UI List LinkOut ASN.1 Related Articles Cited Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Gene (GeneRIF) Links Genome Links Project Links GENSAT Links GEO Profile Links HomoloGene Links Nucleotide Links OMIA Links OMIM Links BioAssay Links Compound Links Compound via MeSH Substance Links Substance via MeSH PMC Links Cited in PMC PopSet Links Probe Links Protein Links SNP Links Structure Links UniGene Links UniSTS Links Show Sort by Author Journal Pub Date Send to Text File Clipboard E-mail Order All: 22 Review: 4 Items 1 - 20 of 22 of 2 Next Lalovic A, Merkens L, Russell L, Arsenault-Lapierre G, Nowaczyk MJ, Porter FD, Steiner RD, Turecki G.

28. NORD - National Organization For Rare Disorders, Inc. BBB Syndrome (Opitz); G Syndrome. General Discussion Opitz G/BBB Syndrome oropitz syndrome is a genetic disorder that may be evident at birth. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Opitz G/BBB S

29. Smith-Lemli-Opitz Syndrome II (David W. Smith) (www.whonamedit.com) SmithLemli-opitz syndrome II (David W. Smith) A syndrome similar to theSmith-Lemli-opitz syndrome I which, in addition, is characterised by http://www.whonamedit.com/synd.cfm/1721.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Smith-Lemli-Opitz syndrome II (David W. Smith) Synonyms: SLO II: Associated persons: Luc Lemli John Marius Opitz David Weyhe Smith Description: A syndrome similar to the Smith-Lemli-Opitz syndrome I which, in addition, is characterised by pseudohermaphroditism and frequent early death. Other features may include Hirschprun's syndrome, unilobated lungs, congenital heart defect, enlarged adrenals, and Langerhans cell hyperplasia. The term Smith-Lemli-Opitz syndrome II has been used as a synonym for Gardner-Silengo-Wachtler syndrome, or genitopalatocardiac syndrome. This seems to be a misnomer. See under Lytt I. Gardner, American paediatrician and human geneticist, Syracuse. Bibliography: C. J. R. Curry Jr., J. C. Carey, H. J. Holland:

30. 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 Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related 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.

31. Precise Cause Of Smith-Lemli-Opitz Syndrome Found -- Sheldon 317 (7159): 620 -- Precise cause of SmithLemli-opitz syndrome found. Tony Sheldon, Utrecht.Researchers at Amsterdam s Academic Medical Center claim to have found the precise http://bmj.bmjjournals.com/cgi/content/full/317/7159/620/a

Home Help Search Archive ... Table of Contents Author Keyword(s) Vol Page [Advanced] This article Extract Respond to this article Alert me when this article is cited Alert me when responses are posted ... Alert me when a correction is posted Services Email this article to a friend Find similar articles in BMJ Alert me to new issues of the journal Download to citation manager PubMed Articles by Sheldon, T. Related content Pregnancy Genetics BMJ 1998;317:620 ( 5 September ) News extra Precise cause of Smith-Lemli-Opitz syndrome found Tony Sheldon, Utrecht Researchers at Amsterdam's Academic Medical Center claim to have found the precise cause of Smith-Lemli-Opitz (SLO) syndrome, which affects between one in 20 000 and one in 40 000 babies, often resulting in multiple congenital abnormalities. Results published in the latest issue of the American Journal of Human Genetics (1998;63:329-38) show that SLO syndrome is caused by mutations in the gene coding of enzyme 7 dehydrocholesterol reductase (7-DHCR), which stimulates the biosynthesis of cholesterol, lacking in all patients with the syndrome. Researchers were able to identify the 7-DHCR gene by using computer techniques to compare the human genome with that of Arabidopsis thaliana , a common plant in Dutch sand dunes that shares the same 7-DHCR enzyme as humans. Using chromosomal mapping, they could then localise the gene on chromosome 11q13. Research on three patients with SLO syndrome has shown that they all have the same defect in the genetic code of the enzyme.

32. Clinical Trial: Study Of Smith-Lemli-Opitz Syndrome The SmithLemli-opitz syndrome (SLOS) is an autosomal recessive multiple Opitz JM. RSH/SLO ( Smith-Lemli-Opitz ) syndrome historical, genetic, http://www.clinicaltrials.gov/ct/gui/show/NCT00001721

Home Search Browse Resources ... About Study of Smith-Lemli-Opitz Syndrome This study is currently recruiting patients. Verified by National Institutes of Health Clinical Center (CC) March 9, 2005 Sponsored by: National Institute of Child Health and Human Development (NICHD) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder (autosomal recessive) caused by an abnormality in the production of cholesterol. The disorder can occur in both a "mild" or "severe" form. SLOS is associated with multiple birth defects and mental retardation. Some of the birth defects include; abnormal facial features, poor muscle tone, poor growth, shortened life span, and abnormalities of the heart, lungs, brain, gastrointestinal tract, limbs, genitalia, and kidneys. There is no known cure for SLOS but recently patients have been treated with increased amounts of cholesterol in their diet. The cholesterol in a persons diet is unable to correct the abnormalities in the patient's organs, but researchers hope it will improve growth failure and mental retardation. This study was developed to answer questions about the causes and complications of SLOS, as well as the effectiveness of cholesterol treatment. The study will enroll patients diagnosed with SLOS, and their mothers. The objectives of the study will be to address the following questions:

33. Clinical Trial: Prenatal Screening For Smith-Lemli-Opitz Syndrome SmithLemli-opitz syndrome (SLOS) is a genetic condition that causes mental Assigning risk for Smith-Lemli-opitz syndrome as part of 2nd trimester http://www.clinicaltrials.gov/ct/gui/show/NCT00070850

Home Search Browse Resources ... About Prenatal Screening For Smith-Lemli-Opitz Syndrome This study is currently recruiting patients. Verified by National Institute of Child Health and Human Development (NICHD) October 2004 Sponsored by: National Institute of Child Health and Human Development (NICHD) Information provided by: National Institute of Child Health and Human Development (NICHD) ClinicalTrials.gov Identifier: Purpose Smith-Lemli-Opitz Syndrome (SLOS) is a genetic condition that causes mental retardation and other birth defects. This study will evaluate a new prenatal screening test for SLOS. Condition Phase Smith-Lemli-Opitz Syndrome Pregnancy Phase II MedlinePlus related topics: Birth Defects Genetic Disorders Metabolic Disorders Genetics Home Reference related topics: Smith-Lemli-Opitz syndrome Study Type: Observational Study Design: Screening, Longitudinal, Defined Population, Prospective Study Official Title: The Feasibility of Screening for Smith-Lemli-Opitz Syndrome Further Study Details: Expected Total Enrollment: 1800 Study start: April 2001; Expected completion: March 2005

34. Smith-Lemli-Opitz Syndrome Article describes SmithLemli-opitz syndrome, its symptoms, diagnosis, and treatment. http://rarediseases.about.com/od/rarediseasess/a/060204.htm

var zLb=12; zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases S - V Rare Diseases: S Smith-Lemli-Opitz Syndrome Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Stay up to date! Compare Prices Email to a friend ... Print this page Suggested Reading Other metabolic disorders Elsewhere on the Web Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Charcot-Marie-Tooth Disease Peyronie's Disease Twin-to-Twin Transfusion Synd Autoimmune Kidney Disease ... Cri-du-Chat Syndrome adunitCM(150,100,'x55') Smith-Lemli-Opitz Syndrome From Mary Kugler Your Guide to Rare / Orphan Diseases FREE Newsletter. Sign Up Now! Inherited metabolic disorder Symptoms Diagnosis Treatment and Research Information for this article was taken from: zau(256,420,100,'ri','http://z.about.com/5/o/c.htm?gs='+gs,'')

35. Smith-Lemli-Opitz Syndrome This inherited metabolic disorder interrupts the synthesis of cholesterol in thebody, resulting in toolow levels of cholesterol. Rather than being healthy http://rarediseases.about.com/b/a/090002.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Smith-Lemli-Opitz Syndrome Rare/Orphan Diseases Blog Main From Mary Kugler Your Guide to Rare / Orphan Diseases FREE Newsletter. Sign Up Now! June 06, 2004 Smith-Lemli-Opitz Syndrome This inherited metabolic disorder interrupts the synthesis of cholesterol in the body, resulting in too-low levels of cholesterol. Rather than being healthy, this leads to physical malformations, mental retardation, and behavior problems. Email a Friend Display Latest Headlines Read Archives Advertisement Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Charcot-Marie-Tooth Disease Peyronie's Disease Twin-to-Twin Transfusion Synd Autoimmune Kidney Disease ... Cri-du-Chat Syndrome adunitCM(150,100,'x55') Topic Index Email to a Friend Our Story Be a Guide ... Patent Info.

36. Opitz G/BBB Syndrome Opitz G/BBB Syndrome or opitz syndrome is a genetic disorder that may be evidentat birth. The syndrome http://my.webmd.com/hw/health_guide_atoz/nord828.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Opitz G/BBB Syndrome Important It is possible that the main title of the report Opitz G/BBB Syndrome 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. Synonyms Opitz Syndrome BBBG Syndrome Hypertelorism with Esophageal Abnormalities and Hypospadias Hypertelorism-Hypospadias Syndrome Hypospadias-Dysphagia Syndrome Opitz BBB Syndrome Opitz BBBG Syndrome Opitz BBB/G Compound Syndrome Opitz G Syndrome Opitz Hypertelorism-Hypospadias Syndrome Opitz Oculogenitolaryngeal Syndrome Opitz-Frias Syndrome Telecanthus-Hypospadias Syndrome Opitz Syndrome Disorder Subdivisions BBB Syndrome (Opitz) G Syndrome General Discussion 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).

37. Kennedy Krieger Institute Smith-Lemli-Opitz Syndrome SmithLemli-opitz syndrome. SLOS is a genetic disorder that affects the developmentof children both before and after birth. The syndrome was first http://www.kennedykrieger.org/kki_diag.jsp?pid=1104

38. Special Child: Disorder Zone Archives - Smith-Lemli-Opitz Syndrome SmithLemli-opitz syndrome (SLOS) is a metabolic disorder characterized by For more information on Smith-Lemli-opitz syndrome, please see the following http://www.specialchild.com/archives/dz-030.html

Disorder Zone Archives Smith-Lemli-Opitz Syndrome Chase Woodward 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)

39. Smith-Lemli-Opitz Syndrome - Wikipedia, The Free Encyclopedia SmithLemli-opitz syndrome is a developmental disorder that affects many partsof the body Infants with Smith-Lemli-opitz syndrome have weak muscle tone http://en.wikipedia.org/wiki/Smith-Lemli-Opitz_syndrome

You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Smith-Lemli-Opitz syndrome From Wikipedia, the free encyclopedia. Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size ( microcephaly mental retardation or learning disabilities, and behavioral problems. Malformations of the heart lungs kidneys gastrointestinal tract , and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone ( hypotonia ), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes ( syndactyly ), and some have extra fingers or toes ( polydactyly Smith-Lemli-Opitz syndrome affects an estimated 1 in 20,000 to 40,000 births. This condition is most common in Caucasians of European ancestry. It is very rare among African and Asian populations. This condition is inherited in an autosomal recessive pattern, which means two copies of the

40. Smith-Lemli-Opitz Syndrome: Information From Answers.com SmithLemli-opitz syndrome Smith-Lemli-opitz syndrome is a developmental disorderthat affects many parts of the body. http://www.answers.com/topic/smith-lemli-opitz-syndrome

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping Smith-Lemli-Opitz syndrome Wikipedia Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size ( microcephaly mental retardation or learning disabilities, and behavioral problems. Malformations of the heart lungs kidneys gastrointestinal tract , and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone ( hypotonia ), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes ( syndactyly ), and some have extra fingers or toes ( polydactyly Smith-Lemli-Opitz syndrome affects an estimated 1 in 20,000 to 40,000 births. This condition is most common in Caucasians of European ancestry. It is very rare among African and Asian populations. This condition is inherited in an autosomal recessive pattern, which means two copies of the

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 2     21-40 of 102    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20