Smith-Lemli-Opitz syndrome (SLOS, SLO syndrome, RSH syndrome)
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Epidemiology
- frequent inborn disorder of sterol metabolism
- 1 in 20,000 to 30,000 births in populations of northern & central European decent
Genetics
- autosomal recessive
- defects in DHCR7 associated with Smith-Lemli-Opitz syndrome
Clinical manifestations
- characteristic congenital malformations & dysmorphias
- all patients suffer from mental retardation
Laboratory
- borderline to elevated 7-dehydrocholesterol in serum/plasma[3]
- 8-dehydrocholesterol in serum/plasma may also be elevated[3][4]
- 7-dehydrocholesterol in amniotic fluid may be diagnostic[4]
- low serum cholesterol levels
- clinical distinction often was made between classic (type 1) & more severely affected type 2
- in reality, a clinical & biochemical continuum from mild to severe SLOS occurs
More general terms
More specific terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q9UBM7.html
- ↑ OMIM https://mirror.omim.org/entry/270400
- ↑ 3.0 3.1 3.2 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: https://www.ncbi.nlm.nih.gov/pubmed/16435228
- ↑ 4.0 4.1 4.2 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: https://www.ncbi.nlm.nih.gov/pubmed/16231320