2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Distinctive facial features, cleft palate, talipes equinovarus, genital anomalies and 2,3 toe syndactyly in individuals with prenatal opiate exposure

Distinctive facial features, cleft palate, talipes equinovarus, genital anomalies and 2,3 toe syndactyly in individuals with prenatal opiate exposure

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Pdf Summary

This study examined five patients with prenatal exposure to Fentanyl who presented with a shared phenotype including distinctive facial features, cleft palate, talipes equinovarus, genital anomalies, and 2,3 toe syndactyly. These patients also had prenatal exposures to other substances, but maternal opiate use, specifically Fentanyl, was present in all cases. The effects of maternal Fentanyl use during pregnancy have not been extensively studied, but it has been linked to poor fetal growth, preterm birth, stillbirth, and specific birth defects. <br /><br />Genetic testing did not identify any suggestive variants, and prenatal alcohol exposure was either denied or minimal. Therefore, a potential teratogenic cause, specifically Fentanyl or combined substance exposure, is suspected. The patients also exhibited dysmorphic facial features initially suggestive of Smith-Lemli-Opitz syndrome (SLO) but were distinguishable from both SLO and fetal alcohol syndrome through facial analysis using the Face2Gene Gestalt Matcher algorithm.<br /><br />The clinical symptoms observed in the patients included cleft palate, talipes equinovarus, hearing loss, genital anomalies, single palmar crease, 2,3 toe syndactyly, cortical thumb, and corpus callosum anomalies. Two patients showed elevated levels of 7-dehydrocholesterol and/or 8-dehydrocholesterol shortly after birth, but these levels normalized on repeat testing.<br /><br />In conclusion, these findings suggest a potential teratogenic effect of prenatal Fentanyl exposure, either alone or in combination with other substances. The distinctive facial features and other clinical findings observed in the patients indicate a shared phenotype that is different from both SLO and fetal alcohol syndrome. Further research is needed to better understand the effects of Fentanyl exposure during pregnancy and its possible contribution to specific birth defects.

Asset Subtitle

Presenting Author - Erin Wadman, MS, CGC; Co-Author - Erica Fernandes, DO; Co-Author - Nina N. Powell-Hamilton, MD, FAAP, FACMG; Co-Author - Candace Muss, LCGC PAC; Co-Author - Carolina Alves, BS, MS; Co-Author - Karen W. Gripp, MD, FACMG;

Meta Tag

Clinical History

Congenital Anomaly

Delineation of Diseases

Dysmorphology

Etiology

Exome sequencing

Genetic Testing

Genitourinary malformations

Microarray

Morphogenesis

Natural History

Phenotype

Phenotypic delineation of disorders

Co-Author Erica Fernandes, DO

Co-Author Nina N. Powell-Hamilton, MD, FAAP, FACMG

Co-Author Candace Muss, LCGC PAC

Co-Author Carolina Alves, BS, MS

Co-Author Karen W. Gripp, MD, FACMG

Presenting Author Erin Wadman, MS, CGC

Keywords

prenatal exposure

Fentanyl

distinctive facial features

cleft palate

talipes equinovarus

genital anomalies

2,3 toe syndactyly

maternal opiate use

poor fetal growth

preterm birth