New study highlights mortality risks in Smith-Lemli-Opitz syndrome

Although individuals with Smith-Lemli-Opitz syndrome (SLOS) can survive into adulthood, those with higher severity scores and lower initial cholesterol levels face an increased risk of postnatal mortality, according to a study.

The recent study analyzed death certificates from the National Death Index database for individuals with SLOS enrolled in natural history studies at the National Institutes of Health (ClinicalTrials.gov IDs: NCT00001721 and NCT05047354). Findings revealed that postnatal mortality risks increase with higher severity scores and lower initial cholesterol levels.

The results underscore the need for further research to identify factors contributing to mortality in SLOS and improve monitoring and preventive care for affected individuals.

Reference
Selvaraman A, Rahhal S, Bianconi S, et al. Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome. Am J Med Genet A. 2025;197(2):e63875. doi: 10.1002/ajmg.a.63875. Epub 2024 Sep 13. PMID: 39271956; PMCID: PMC11698646.