Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome, like PKU (phenylketonuria) is a treatable metabolic disorder causing mental retardation. Like Down Syndrome and Turner Syndrome, SLOS is associated with typical physical manifestations, such as malformations of the organs or of the hands and feet. These physical manifestations can in and of themselves be life-threatening, although they might be of little or moderate severity.

Treatment includes dietary modifications and symptomatic treatment of associated physical problems.

Smith-Lemli-Opitz Syndrome
Lots of information, somewhat technical in nature.

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Prenatal Diagnoses

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