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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 / RSH SLO Syndrome / RSH Syndromes / RSH-SLO Syndromes / Smith Lemli Opitz Syndrome / Smith Lemli Opitz Syndrome, Type I / Smith Lemli Opitz Syndrome, Type II
MeSH 2010 © U.S. National Library of Medicine®.
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  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
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  Web resources for "Smith-Lemli-Opitz Syndrome"
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view the HON description of the site HONcode - Smith-Lemli-Opitz syndrome - Genetics Home Referenceghr.nlm.nih.gov 2
view the robot description of the site Whonamedit - Smith-Lemli-Opitz syndrome II (David W. Smith)www.whonamedit.com 3
view the HON description of the site HONcode - Orphanet: Smith Lemli Opitz syndromewww.orpha.net 2
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org  
 
 

Broader term(s): - Abnormalities, Multiple - Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Metabolism, Inborn Errors - Genetic Diseases, Inborn

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Broader term(s): - Abnormalities

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  Scientific articles from MEDLINE for "Smith-Lemli-Opitz Syndrome"
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Subheadings: diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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Broader term(s): - Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Metabolism, Inborn Errors

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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®.

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