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Date of Award
Spring 2025
Degree Name
Master of Medical Science (Physician Assistant)
Department
Physician Assistant; College of Health Sciences
First Advisor
Professor Kim Erikson
Abstract
Smith-Lemli-Opitz Syndrome (SLOS) and Fetal Fentanyl Syndrome (FFS) are both conditions that present with similar clinical features but have different pathophysiologies. SLOS is an autosomal recessive disorder resulting from a mutation in the DHCR7 gene, affecting the cholesterol synthesis pathway, ultimately leading to physical and cognitive impairments. FFS, is an emerging diagnosis that only presents with prenatal exposure to fentanyl. This exposure disrupts the same cholesterol synthesis pathway seen in SLOS, but unlike SLOS, it is not inherited. Instead, it is a developmental condition resulting from in utero opioid exposure,
leading to similar physical characteristics due to the disruption of the same cholesterol pathway. FFS has become an emerging diagnosis within the more recent years secondary to the unfortunate rise in opioid use during pregnancy. If we can begin to understand the presentation and familiarize ourselves with the risk factors and varying presentations, we can significantly improve patient outcomes. This CME examines the mechanisms of disease for both SLOS and FFS, the various clinical displays and features, appropriate treatments, diagnostics, and education on the ability to provide the appropriate standard of care for this special patient population.
Recommended Citation
Morelock, Laura A., "Navigating the Overlapping Landscapes of Smith-Lemli-Opitz Syndrome and Fetal Fentanyl Syndrome: Impacts on Neonatal Development" (2025). Capstone Showcase. 47.
https://scholarworks.arcadia.edu/showcase/2025/pa/47
Navigating the Overlapping Landscapes of Smith-Lemli-Opitz Syndrome and Fetal Fentanyl Syndrome: Impacts on Neonatal Development
Smith-Lemli-Opitz Syndrome (SLOS) and Fetal Fentanyl Syndrome (FFS) are both conditions that present with similar clinical features but have different pathophysiologies. SLOS is an autosomal recessive disorder resulting from a mutation in the DHCR7 gene, affecting the cholesterol synthesis pathway, ultimately leading to physical and cognitive impairments. FFS, is an emerging diagnosis that only presents with prenatal exposure to fentanyl. This exposure disrupts the same cholesterol synthesis pathway seen in SLOS, but unlike SLOS, it is not inherited. Instead, it is a developmental condition resulting from in utero opioid exposure,
leading to similar physical characteristics due to the disruption of the same cholesterol pathway. FFS has become an emerging diagnosis within the more recent years secondary to the unfortunate rise in opioid use during pregnancy. If we can begin to understand the presentation and familiarize ourselves with the risk factors and varying presentations, we can significantly improve patient outcomes. This CME examines the mechanisms of disease for both SLOS and FFS, the various clinical displays and features, appropriate treatments, diagnostics, and education on the ability to provide the appropriate standard of care for this special patient population.