Smith-Lemli-Opitz Syndrome
Analysis ID 99
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Smith-Lemli-Opitz Syndrome
OMIM #270400
Clinical information Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive metabolic congenital disorder. SLOS is characterized by multiple congenital defects with coexisting retardation of psychomotor development. Disease is caused by mutations in DHCR7 gene (encoding for 7-DHC reductase enzyme), which lead to abnormal cholesterol biosynthesis (with reduced serum levels of cholesterol). Frequency of SLOS ranges from 1:20 000 to 1: 60 000, but seems to be underestimated. Classical form of SLOS shows intrauterine growth retardation, hypotonia, microcephaly, characteristic abnormal facial appearance, including epicanthal folds, short nose, with anteverted nostrils, micrognathia, syndactyly of 2nd and 3rd toes, postaxial polydactyly, different anomalies of the external genitalia (small penis, hypospadias, cryptorchidism, ambiguous genitalia), as well as internal organ malformations (heart, kidney, intestinal defects). In milder forms, symptoms of SLOS are limited to slight facial dysmorphism, which becomes more prominent in early childhood (cholesterol blood concentrations are within normal range). The genetic test consist of sequencing analysis of the DHCR7 gene.
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in an EDTA tube
Analyzed genes DHCR7 (exons 6 and 9 - common Polish mutations)
Analysis description
Analysis indication Symptoms which may suggest SLOS
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders