Incidence of Smith-Lemli-Opitz syndrome in Canada: Results of three-year population surveillance

Malformation syndromes caused by disorders of cholesterol synthesis

“…The incidence of SLOS is reported to be 1:10,000 to 1:70,000 in populations of Northern and Central European heritage ( 35,(75)(76)(77)(78). Based on biochemical testing, Kelley ( 76 ) estimated an incidence of 1:50,000 in the United States.…”

Beyond counting cases: public health impacts of national Paediatric Surveillance Units

“…37 Facilitating molecular epidemiological studies Studies of Rett, Prader-Willi and Smith-Lemli-Opitz syndromes and the CHARGE association have estimated national incidence rates for these rare genetic disorders. [38][39][40] Surveillance studies have enabled establishment of cohorts that will be followed longitudinally to assess disease prognosis, have enabled researchers to investigate genotype-phenotype correlations and have highlighted the advantage of early genetic confirmation of the diagnosis for ensuring early access to multidisciplinary care. 40 41 Demonstrating the extent of health service usage by affected children has helped to justify establishment of new models of health service delivery.…”

3β-Hydroxysterol Δ7-reductase and the Smith–Lemli–Opitz syndrome

“…predicts a disease incidence of about 1/4500. This estimate is clearly at odds with both clinical studies that show an SLOS incidence in the range of 1/10,000 to 1/ 60,000 [96][97][98][99][100][101][102], and with diagnostic rates in US that are consistent with a clinical incidence on the order of 1/ 50,000 [100]. One explanation of this discrepancy is that the true frequency of the IVS8-1G > C mutation is underestimated due to underascertainment of this severe allele in viable SLOS patients [103].…”