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Smith-Lemli-Opitz syndrome (SLOS, SLO syndrome, RSH syndrome)

Epidemiology: 1) frequent inborn disorder of sterol metabolism 2) 1 in 20,000 to 30,000 births in populations of northern & central European decent Genetics: 1) autosomal recessive 2) defects in DHCR7 associated with Smith-Lemli-Opitz syndrome Clinical manifestations: 1) characteristic congenital malformations & dysmorphias 2) all patients suffer from mental retardation Laboratory: 1) borderline to elevated 7-dehydrocholesterol in serum/plasma [3] - 8-dehydrocholesterol in serum/plasma may also be elevated [3,4] 2) 7-dehydrocholesterol in amniotic fluid may be diagnostic [4] 3) low serum cholesterol levels 4) clinical distinction often was made between classic (type 1) & more severely affected type 2 5) in reality, a clinical & biochemical continuum from mild to severe SLOS occurs

Related

7-dehydrocholesterol reductase; 7-DHC reductase; sterol reductase SR-2; sterol delta(7)-reductase (DHCR7 D7SR)

Specific

Smith-Lemli-Opitz syndrome type I Smith-Lemli-Opitz syndrome type II

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM 270400

References

  1. UniProt :accession Q9UBM7
  2. OMIM :accession 270400
  3. Haas D, Armbrust S, Haas JP Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations. J Inherit Metab Dis. 2005;28(6):1191-6. PMID: 16435228
  4. Chevy F, Humbert L, Wolf C. Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit. Prenat Diagn. 2005 Nov;25(11):1000-6. PMID: 16231320