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Hierarchy  - English - French - German - Spanish - Portuguese - Italian - Dutch    Smith-Lemli-Opitz Syndrome Definition: An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase (DHCR7), the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and MENTAL RETARDATION. Synonym(s): RSH Syndrome / RSH-SLO Syndrome / Smith-Lemli-Opitz Syndrome, Type I / Smith-Lemli-Opitz Syndrome, Type II / MeSH 2010 © U.S. National Library of Medicine®. Browse - New search

More information from the Genetics Home Reference Website 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 a ... How common is Smith-Lemli-Opitz syndrome? Smith-Lemli-Opitz syndrome affects an estimated 1 in 20,000 to 40,000 births. This condition is most common in Caucasians (whites) of European ancestry. It is very rare among African and Asian populations. More information from the Genetics Home Reference Website © Genetics Home Reference Browse - New search       Web resources for "Smith-Lemli-Opitz Syndrome"   English (5)    German (1)  Spanish (1)       = Site with HON description   -   = Site with a robot description info: enter the site: (click below) domain of the site:   HONcode - Smith-Lemli-Opitz syndrome - Genetics Home Reference ghr.nlm.nih.gov 2 Whonamedit - Smith-Lemli-Opitz syndrome II (David W. Smith) www.whonamedit.com 3 HONcode - Orphanet: Smith Lemli Opitz syndrome www.orpha.net 2 rare-diseases — National Organization for Rare Disorders www.rarediseases.org   Broader term(s): - Abnormalities, Multiple - Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Metabolism, Inborn Errors - Genetic Diseases, Inborn Browse - New search       Medical image(s) for "Smith-Lemli-Opitz Syndrome" No results for this term. Browse other medical images in HONmedia? Browse - New search       Medical News for "Smith-Lemli-Opitz Syndrome" No results for this term. More health news Broader term(s): - Abnormalities Browse - New search       Scientific articles from MEDLINE for "Smith-Lemli-Opitz Syndrome"   - English - French - German - Spanish - Portuguese - Italian - Dutch     All recent articles  Therapy:  by recall    /  by precision  Diagnosis:  by recall    /  by precision  Etiology:  by recall    /  by precision  Prognosis:  by recall    /  by precision Subheadings: diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy Browse - New search       Clinical Trials for "Smith-Lemli-Opitz Syndrome" ClinicalTrials.gov - Linking patients to medical research Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Study of Smith-Lemli-Opitz Syndrome   More results Broader term(s): - Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Metabolism, Inborn Errors Browse - New search       Medical Conferences/Events for "Smith-Lemli-Opitz Syndrome" No results for this term. Consult HON's world-wide database of medical meetings Browse - New search       Refine the search for  "Smith-Lemli-Opitz Syndrome" Subheadings: diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy   Broader term(s):       Diseases           Nutritional and Metabolic Diseases               Metabolic Diseases                   Metabolism, Inborn Errors                       Steroid Metabolism, Inborn Errors                        Lipid Metabolism, Inborn Errors        Diseases           Congenital, Hereditary, and Neonatal Diseases and Abnormalities               Genetic Diseases, Inborn                   Metabolism, Inborn Errors                       Steroid Metabolism, Inborn Errors                        Lipid Metabolism, Inborn Errors                Abnormalities                   Abnormalities, Multiple  MeSH 2010 © U.S. National Library of Medicine®. Browse - New search

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