The good news is that, if Smith Lemli Opitz syndrome is properly managed and adequate medical care delivered, those with…

Smith-Lemli-Opitz syndrome is an autosomal recessive disease caused by mutations in the DHCR7 gene. An individual who inherits one copy…

Smith–Lemli–Opitz syndrome disease incidence has been studied, primarily in Europe and Canada. Diagnoses have been confirmed by molecular and biochemical…