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last update : 24-11-2010
Symbol SLOS
Location 11q13.4
Name Smith-Lemli-Opitz syndrome
Other name(s)
  • rutledge lethal multiple congenital anomaly syndrome
  • polydactyly, sex reversal, renal hypoplasia, and unilobular lung
  • Corresponding gene DHCR7
    Other symbol(s) SLO, RSH
    Main clinical features
  • characterized by mental and growth retardation, cleft palate, hypospadias, postaxial polydactyly, distinct craniofacial abnormalities, hypocholesterolemia and increased levels of 7 dehydrocholesterol and secondary detect of LDL cholesterol metabolism in fibroblasts
  • Genetic determination autosomal recessive
    Prevalence between 1:15000 and 1:60000 in populations of European origin
    Related entries including the acrodysgenital syndrome and lethal forms
    Function/system disorder congenital malformation
    mental retardation
    Type disease
    Gene product
    Name dehydrocholesterol reductase
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein two of them, in exons 4 and 6-9, accounting for one-third of all mutations (IVS8-1G > C, W151X), maternal APOE genotype is a modifier of the severity
    Remark(s) cholesterol-deficient SLOS fetus is able to obtain cholesterol from trophoblasts at a time when cholesterol is playing a critical role in development, and has implications for design of treatments for cholesterol deficiency syndromes