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
Opitz Syndrome opitz syndrome Information, national and international support groups, clinicswith genetic counselors and geneticists. http://www.kumc.edu/gec/support/opitz.html
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 of Disorder Bibliography with Abstracts.Prenatal Diagnosis. Background and Instructions Sample Submission FormSmithLemli-opitz syndrome. http://www.hopkinsmedicine.org/cmsl/SLOS.html
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
Extractions: Home What's New Browse Handbook ... Search Smith-Lemli-Opitz syndrome On this page: 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.
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
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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
Extractions: 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.
Extractions: 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 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.
Extractions: 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 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.
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
Extractions: 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:
Extractions: 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
Smith-Lemli-Opitz Syndrome Article describes SmithLemli-opitz syndrome, its symptoms, diagnosis, and treatment. http://rarediseases.about.com/od/rarediseasess/a/060204.htm
Extractions: 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); Sign Up Now for the Rare / Orphan Diseases newsletter! 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') From Mary Kugler
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
Extractions: 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); Sign Up Now for the Rare / Orphan Diseases newsletter! 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
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
Extractions: 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).
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
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)
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
Extractions: 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 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
Extractions: 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
