Smith-Lemli-Opitz Syndrome (SLOS)

SLOS is a rare genetic disorder caused by biallelic pathogenic variants in the DHCR7 gene, leading to defects in cholesterol synthesis and lipid metabolism.^1,2

A collection of resources screengrabs about SLOS

Disease Information

Explore engaging videos and slide-based information about the latest developments in SLOS. In this section, you'll find insights straight from the field, delivered by Dr Joseph W. Ray, MD. Video and slides cover:

Diagnosis and Screening
Serum Biomarkers

A collection of case study and patient journey images of people with SLOS

Case Studies

Examine real-world patient cases to help detail diagnostic journeys and progression patterns.

References: 1. Kritzer A, et al. Genet Med. 2025;27(7)101450. 2. Shefer S, et al. J Clin Invest. 1995;96(4):1779-1785.