Incidence of Smith-Lemli-Opitz syndrome in Slovakia

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

“…[2][3][4] The syndrome is reportedly common in the Czech Republic and Slovakia and is rare or absent in nonCaucasian populations. SLOS is the prototype of a severe human malformation syndrome which is caused by an inborn error of metabolism.…”

Autism as a disorder of neural information processing: directions for research and targets for therapy

“…Another genetic condition that shares autistic symptoms is Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive, multiple malformation/mental retardation syndrome [213] with an estimated incidence among individuals of European ancestry of one in 40,000 to one in 60,000 births [150,202,39,132], and a probable average carrier frequency of 1% [132]. Principal abnormalities include a characteristic facial appearance, microcephaly, hypotonia, postnatal growth retardation, 2-3 toe syndactyly, and hypogenitalism.…”

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.…”