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Smith-Lemli-Opitz Syndrome
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Smith-Lemli-Opitz syndrome (OMIM 270400) (SLOS) is a multiple congenital anomaly disorder caused by an inborn error of cholesterol synthesis. Studies demonstrated that mutations in the gene for 3b-hydroxysterol-D7 reductase (DHCR7) result in low plasma cholesterol and corresponding increases in 7DHC. Distinctive facial features of include ptosis, small nose with anteverted nares, and micrognathia. Acral dysgenesis is common, foremost of which involve syndactyly and polydactyly. Children with SLOS often have a behavioral phenotype within the autism spectrum.
Title: Smith-Lemli-Opitz Syndrome
Description:
Smith-Lemli-Opitz syndrome (OMIM 270400) (SLOS) is a multiple congenital anomaly disorder caused by an inborn error of cholesterol synthesis.
Studies demonstrated that mutations in the gene for 3b-hydroxysterol-D7 reductase (DHCR7) result in low plasma cholesterol and corresponding increases in 7DHC.
Distinctive facial features of include ptosis, small nose with anteverted nares, and micrognathia.
Acral dysgenesis is common, foremost of which involve syndactyly and polydactyly.
Children with SLOS often have a behavioral phenotype within the autism spectrum.
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