A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare craniofacial syndrome due to pathogenic variants in <i>EFTUD2</i>. Affected patients may present with cleft palate, dysmorphic craniofacial features, short stature, microcephaly, developmental delay/intellectual disability, and variable congenital anomalies. Gastrointestinal anomalies include esophageal atresia and tracheoesophageal fistula. Congenital diaphragmatic hernia (CDH) has not been previously reported. Here, we present a novel case of MFDM with CDH in a late preterm female with multiple congenital malformations observed prenatally. Postnatal genetic testing was diagnostic for a heterozygous <i>de novo</i> pathogenic variant in <i>EFTUD2</i>, consistent with a diagnosis of MFDM.