Smith Lemli Opitz Syndrome

Smith-Lemli-Opitz syndrome (SLOS) is caused by a deficiency of the enzyme 7-dehydrocholesterol reductase, the final step in the cholesterol biosynthesis. It is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. SLOS is most common in central and northern Europe with an estimated incidence of around 1/ 20,000 to 1/ 40,000 births. The disease is present at birth (with hypotonia, dysmorphic facies and genitals as common features), but may be detected in later childhood or adulthood in mild forms. Patients present with growth retardation and intellectual deficit. Behavioral problems include multiple autistic traits, hyperactivity, self-injurious behavior and sleep disturbances. (Source: Orphanet)

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