Identifying recurrent patterns of congenital anomalies is crucial in defining new syndromes. Recent advancements in exome and genome analysis have facilitated the discovery of shared genetic variants among affected individuals, leading to the delineation of novel syndromes.
This article presents a unique syndrome that emerged in a cohort of patients with physical and biochemical anomalies suggestive of Smith-Lemli-Opitz syndrome (SLOS). However, genetic analysis did not confirm SLOS as the cause, prompting further investigation into a potential shared teratogen: nonprescription fentanyl exposure during pregnancy. The study was published in Genetics in Medicine Open.Â
The six individuals discussed in this report were born after pregnancies complicated by multiple drug exposures, including fentanyl, a potent opioid. Despite the absence of genetic abnormalities associated with SLOS or any other known syndrome, these infants exhibited common features such as low growth parameters, feeding difficulties, distinctive facial characteristics, single palmar crease, adducted thumb, 2,3 toe syndactyly, cleft palate, genital anomalies in males, and foot position abnormalities.
Moreover, three out of five infants who underwent brain magnetic resonance imaging showed a hypoplastic corpus callosum with diffuse thinning. Their clinical presentation raised suspicion of SLOS, leading to biochemical testing. Notably, elevated levels of 7-dehydrocholesterol (7-DHC) or 8-dehydrocholesterol (8-DHC) shortly after birth suggested a potential metabolic connection.Â
Facial feature analysis, using the Gestalt Matcher algorithm, confirmed the distinctiveness of the images from this group when compared to images from SLOS, fetal alcohol syndrome (FAS), and typical individuals. This finding underscores the unique nature of the syndrome associated with prenatal fentanyl exposure. This clinical report highlights the emergence of a novel syndrome linked to prenatal fentanyl exposure.
Multiple children with congenital anomalies and distinctive facial features have been identified, suggesting that this condition is not rare among infants born after pregnancies complicated by maternal fentanyl use disorder. This revelation emphasizes the importance of inquiring about prenatal fentanyl exposure when patients present with suggestive findings, as this information may not be routinely volunteered.Â
While this report sheds light on the syndrome, its incidence remains unclear. In particular, the context of the ongoing fentanyl use epidemic necessitates a comprehensive study to ascertain the prevalence of this novel syndrome. Understanding the scope of this condition and its relationship to prenatal fentanyl exposure is vital for public health efforts and guiding clinical practice.Â
The identification of a novel congenital anomaly syndrome associated with prenatal fentanyl exposure emphasizes the importance of recognizing shared teratogens in cases where genetic causes are not immediately evident. The distinctive features and biochemical anomalies observed in affected infants have led to the rapid recognition of additional cases by clinicians.
Further investigation is essential to determine the true incidence of this syndrome, especially in light of the fentanyl use epidemic. This knowledge will aid healthcare providers in better understanding and managing the condition, as well as raising awareness among pregnant individuals and healthcare professionals about the potential risks of fentanyl exposure during pregnancy.Â
Journal Reference Â
Erin Wadman et al, A novel syndrome associated with prenatal fentanyl exposure, Genetics in Medicine Open (2023). DOI: 10.1016/j.gimo.2023.100834. Â
